Peter Gideon - Academia.edu (original) (raw)
Papers by Peter Gideon
Central precocious puberty may result from organic brain lesions, but is most frequently of idiop... more Central precocious puberty may result from organic brain lesions, but is most frequently of idiopathic origin. Clinical or biochemical factors which could predict a pathological brain MRI in girls with CPP have been searched for. With the recent decline in age at pubertal onset among US and European girls, it has been suggested that only girls with CPP below 6 years of age should have brain MRI performed. Objective: To evaluate the outcome of brain MRI in girls referred with early signs of puberty in relation to age at presentation as well as clinical and biochemical parameters. Method: A single-center study of 229 consecutive girls with early or precocious puberty who had brain imaging performed. We evaluated medical history, clinical and biochemical factors, and four groups were defined based on the outcome of their MRI. Results: Thirteen out of 208 (6.3%) girls with precocious puberty, but no other sign of CNS symptoms, had a pathological brain MRI. Importantly, all 13 girls were...
Ugeskrift for laeger, 2002
We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of ... more We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.
Ugeskrift for laeger, 2012
Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid ant... more Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia and myoclonus, a steroid trial always seems indicated.
Stroke, 1994
Background and Purpose With proton magnetic resonance spectroscopy it is possible to measure the ... more Background and Purpose With proton magnetic resonance spectroscopy it is possible to measure the content of various brain metabolites in vivo, including N-acetylaspartate (which may be used as a neuronal marker), creatine, choline, and lactate. The content of these brain metabolites was measured serially from the acute stage to the chronic stage of infarction. Regional cerebral blood flow was also measured within the affected areas. These factors were compared with the clinical outcome. Methods Six patients with ischemic stroke were examined serially from the acute stage (s 2 days) to the chronic stage (>6 months) with proton magnetic resonance spectroscopy. Cerebral blood flow was measured with single-photon emission-computed tomography with Tc-labeled <i,/-hexamethylenepropyleneamine oxime as flow tracer. Results Lactate was found in all patients in the acute stage of stroke. Lactate was also found in the 3 largest lesions in the chronic stage; in 2 of these patients lactate was not found in
Background: JC-virus (JCV) associated granular cerebellar neuronopathy (JCV-GCN), which causes se... more Background: JC-virus (JCV) associated granular cerebellar neuronopathy (JCV-GCN), which causes severe ataxia, is a rare complication of severe immunodeficiency and caused by a variant of JCV with a VP1-deletion. JCV-GCN has not yet been reported in patients with autoimmune lymphoproliferative syndrome (ALPS-FAS). We report a 34-year old woman with autoimmune lymphoproliferative syndrome (ALPS-FAS) and common variable immunodeficiency (CVID) who developed JCV-GCN which progressed to fatal progressive multifocal leukoencephalopathy (PML).Methods: Extensive longitudinal virologic, genetic and immunologic characterisation by JCV CSF quantification and sequencing, peripheral blood flowcytometry and exome sequencing. Results: A diagnosis of JCV-GCN was established by findings of severe cerebellar vermis atrophy on MRI and a JCV variant with a VP1-deletion (JCV-VP1) in CSF. During a period of 18 months, at which treatment with high dose immunoglobulin, cidofovir, mirtazapine and high dose ...
Background and Purpose: The early time course after acute stroke of cerebral JV-acetylaspartate, ... more Background and Purpose: The early time course after acute stroke of cerebral JV-acetylaspartate, creatine and phosphocreatine, and compounds containing choline was studied in vivo by means of localized water-suppressed proton magnetic resonance spectroscopy. Methods: Eight patients with acute stroke were studied serially in the acute phase, 1 week after, and 2-4 weeks after the onset of clinical symptoms. Ten healthy volunteers served as controls. A stimulated echo (STEAM) sequence was used for measurement of the brain metabolites in a volume of interest located within the infarcted area as visualized by magnetic resonance imaging. For quantification, the unsaturated water signal was used as the internal standard. Regional cerebral blood flow in the infarcted area was measured relative to a symmetrically located unaffected area by means of single-photon emission computed tomographic scanning, using Tc-labeled </,/-hexamethylenepropyleneamine oxime as the flow tracer. Results: Rel...
Ugeskrift For Laeger, Feb 27, 2012
Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid ant... more Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia and myoclonus, a steroid trial always seems indicated.
Acta Neurochirurgica, 2015
Ugeskrift for laeger, Jan 26, 2002
We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of ... more We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.
The Journal of Headache and Pain, 2011
Ugeskrift for laeger, Jan 27, 2012
Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid ant... more Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia and myoclonus, a steroid trial always seems indicated.
Spine, 1996
A prospective randomized trial with assessment of treatment results by an independent observer an... more A prospective randomized trial with assessment of treatment results by an independent observer and by patient questionnaire. This study evaluated whether implantation of polymethylmethacrylate after anterior cervical discectomy improved clinical results and whether polymethylmethacrylate provided a solid bony union with preservation of anatomical relations of the cervical spine. Discectomy without fusion disturbs anatomical relations of the cervical spine. Use of an autologous bone graft frequently causes donor-site complications. Therefore, synthetic materials such as polymethylmethacrylate have been used instead of bone to obtain spinal fusion. Whether these implants improve the clinical results of anterior discectomy is unknown. In addition, the radiological follow-up of discectomy with polymethylmethacrylate has hardly been investigated. Between April, 1986, and April, 1990, all patients with radiologically proven cervical disc pathology and a radicular syndrome were eligible for this study. The primary endpoint of the study was the clinical result after 2 years. Assessment of the result was rated both by an independent observer using Odom's criteria and by the patient using a written questionnaire. Before surgery and during follow-up, radiographs were obtained. Two patients died during follow up. A good result was obtained in 28 of 42 patients (70%) treated with polymethylmethacrylate and in 30 of 39 patients (77%) of patients treated with discectomy only. Pre-operative neck pain subsided earlier if polymethylmethacrylate was used, but the difference was temporary and clinically insignificant. The use of polymethylmethacrylate resulted in a significant lower bony union rate. Polymethylmethacrylate frequently migrated into adjacent vertebrae. No relevant clinical differences between treatments were found. The radiological results of anterior discectomy with polymethylmethacrylate were inferior to those of discectomy only. Based on these results, the use of polymethylmethacrylate to obtain fusion after anterior discectomy is not recommended.
Magnetic Resonance Imaging, 1992
Localized water suppressed proton spectroscopy has opened up a new field of pathophysiological st... more Localized water suppressed proton spectroscopy has opened up a new field of pathophysiological studies of severe brain ischemia. The signals obtained with the pulse sequences used so far are both T1 and T2 weighted. In order to evaluate the extent to which changes in metabolite signals during the course of infarction can be explained by changes in T1 and T2 relaxation times, eight patients with acute stroke were studied. STEAM sequences with varying echo delay times and repetition times were used to measure T1 and T2 of N-acetyl-aspartate (NAA), creatine plus phosphocreatine (Cr+PCr) and choline containing compounds (CHO) in a 27-ml voxel located in the affected area of the brain. Ten healthy volunteers served as controls. We found no difference in T1 or T2 of the metabolites between the patients and the normal controls. The T2 of CHO was longer than that of NAA and Cr+PCr. Our results indicate that spectra obtained in brain infarcts and normal tissue with the same acquisition parameters are directly comparable with respect to relative signal intensities as well as signals scaled with internal and external standards.
Magnetic Resonance Imaging, 1995
An insert gradient head coil with built-in X, Y, and 2 gradients was used for localized proton sp... more An insert gradient head coil with built-in X, Y, and 2 gradients was used for localized proton spectroscopy in the brain of healthy volunteers, using short echo time stimulated echo acquisition mode (STEAM) sequences. Volume of interest size was 3.4 ml, repetition time was 6.0 s, and echo times were 10 and 20 ms, respectively. Good quality proton spectra with practically no eddy current artefacts were acquired allowing observation of strongly coupled compounds, and compounds with short T2 relaxation times. The gradient head coil thus permits further studies of compounds such as glutamine/glutamate and myo-inositols. These compounds were more prominent within grey matter than within white matter. Rough estimations of metabolite concentrations using water as an internal standard were in good agreement with previous reports.
Magnetic Resonance Imaging, 1999
Quantification of metabolite concentrations by proton magnetic resonance spectroscopy (1H-MRS) in... more Quantification of metabolite concentrations by proton magnetic resonance spectroscopy (1H-MRS) in the human brain using water as an internal standard is based on the assumption that water content does not change significantly in pathologic brain tissue. To test this, we used 1H-MRS to estimate brain water content during the course of cerebral infarction. Measurements were performed serially in the acute, subacute, and chronic phase of infarction. Fourteen patients with acute cerebral infarction were examined as well as 9 healthy controls. To correlate with regional cerebral blood flow (rCBF) SPECT-scanning using 99mTc-HMPAO as flow tracer was performed in the patients. Mean water content (SD) in the infarct area was 37.7 (5.1); 41.8 (4.8); 35.2 (5.4); and 39.3 (5.1) mol x [kg wet weight](-1) at 0-3; 4-7; 8-21; and &amp;gt;180 days after stroke, respectively. Water content increased between Day 0-3 and Day 4-7 (p = 0.034) and decreased from Day 0-3 to Day 8-21 (p = 0.028). Water content at Day 4-7 was significantly higher than in controls (p &amp;lt; or = 0.05). At the same time intervals, mean rCBF (SD) was 76 (23); 94 (31); 106 (35); and 64 (26)%, respectively. There was a significant increase in rCBF from Day 0-3 to Day 4-7 (p = 0.050) and from Day 0-3 to Day 8-21 (p = 0.028). No correlation between rCBF and water content was found. Water content in ischemic brain tissue increased significantly between Day 4-7 after stroke. This should be considered when performing quantitative 1H-MRS using water as an internal standard in stroke patients.
Journal of Neurology, 2006
Using MRI, we evaluated the degree of involvement of muscles in the lower extremities of 18 unsel... more Using MRI, we evaluated the degree of involvement of muscles in the lower extremities of 18 unselected patients with facioscapulohumeral muscular dystrophy (FSHD). Findings were correlated with fragment size of the mutated gene, age, disease duration and muscle power. Most affected muscles were the hamstrings followed by the tibialis anterior and the medial gastrocnemius. The vastus-, gluteal- and peroneal muscles were the most unaffected, and the psoas muscle did not show evidence of involvement in any of the investigated subjects. Asymmetric involvement was evident in 15% of the investigated muscles on MRI and 6% on manual muscle strength testing. MRI findings in muscle tended to correlate with disease duration (r = 0.49; p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.05), but not with gene fragment size or age. MRI disclosed involvement of muscles performing hip flexion and ankle dorsal flexion that could not be detected by manual muscle strength testing. Otherwise, there was a close correlation (approximately r = 0.75; p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.0001) between muscle strength and MRI severity score for other muscle groups. The present study shows that MRI may disclose muscle involvement in FSHD that is not apparent on manual muscle testing, and suggests that MRI of muscle may be an important assessment tool in clinical trials involving patients with FSHD.
Journal of Magnetic Resonance Imaging, 1994
With magnetic resonance (MR) imaging, brain water self-diffusion was measured in 17 healthy volun... more With magnetic resonance (MR) imaging, brain water self-diffusion was measured in 17 healthy volunteers 22-76 (mean, 44.6) years old. The calculated values for the apparent diffusion coefficients (ADCs) ranged from 0.58 x 10(-9) to 1.23 x 10(-9) m2/sec in cerebral white matter. A significant correlation was found between the ADC in white matter and age (r = .7069, P &amp;lt; .01). The calculated values for ADC in cortical gray matter ranged from 1.06 x 10(-9) to 1.72 x 10(-9) m2/sec; no correlation was found between ADCs in gray matter and age. The increased ADC in white matter may be caused by an increase in the extracellular volume due to age-dependent neuronal degeneration or to changes in myelination. These findings have implications for future clinical investigations with diffusion MR imaging techniques in patients with neurologic diseases, and stress the importance of having an age-matched group of healthy volunteers for comparison.
Journal of Magnetic Resonance Imaging, 1992
Eight stroke patients were examined serially in the acute phase and 1 week and 2-4 weeks after st... more Eight stroke patients were examined serially in the acute phase and 1 week and 2-4 weeks after stroke with water-suppressed proton magnetic resonance spectroscopy. The time courses of lactate level and regional cerebral blood flow were studied. A high lactate level was found in the acute phase. The lactate content decreased to barely detectable levels during the following 3 weeks, while regional blood flow increased during this period. The inverse relationship between lactate level and cerebral blood flow suggests that lactate plays no substantial role in the vasodilatation underlying the hyperemia that follows reperfusion. The amount of lactate present in the acute phase reflects the severity of ischemia in the affected region. The lactate level was still above normal in the subacute phase with hyperemia, suggesting lactate production through aerobic glycolysis. Thus, the lactate level in the subacute phase probably does not reflect the degree of anaerobic glycolysis in hypoxic neuronal tissue.
The Journal of Clinical Endocrinology & Metabolism, 2011
Objective: A decrease in age at pubertal onset has been observed internationally. The aim of this... more Objective: A decrease in age at pubertal onset has been observed internationally. The aim of this study was to describe a large cohort of Caucasian girls referred with signs of early puberty according to etiology and compare biochemical characteristics. Methods: In this single-center study, we included 449 consecutive Caucasian girls who were referred with signs of early puberty during the years 1993-2009. We evaluated pubertal stage, height, weight, and bone age. FSH, LH, estradiol, and inhibin B were determined, and a standard GnRH test was performed. Brain magnetic resonance imaging was performed to rule out pathologies. Results: During the period from 1993-2008, we found an increase in the number of girls in most diagnostic groups. Of 449 girls, 88 had central precocious puberty (CPP), and 12 of these had an organic origin. A total of 129 had early-normal variant (8-9 yr), 69 had premature thelarche, and 49 premature adrenarche. Receiver operating characteristic analyses revealed that basal LH was superior in predicting the maximal LH level during GnRH testing in comparison with FSH, estradiol, and inhibin B levels. Basal LH levels were above the age-related 2 SD in 26.2, 19.6, 65.1, and 75.0% of girls with, respectively, early-normal variant, premature thelarche, idiopathic CPP, and organic CPP, but LH levels below the detection limit were also seen among girls with a pubertal GnRH test. Conclusion: We observed an increasing number of girls referred because of early pubertal signs. An elevated basal LH was highly predictive of a pubertal GnRH test result, whereas a low LH did not exclude central pubertal activation.
American Journal of Medical Genetics, 2004
We report on a pair of monozygotic twins belonging to a family segregating Huntington disease (HD... more We report on a pair of monozygotic twins belonging to a family segregating Huntington disease (HD). In routine DNA analysis of blood cells, they displayed three alleles of the CAG repeat sequence in the HD gene. Two different cell lines, carrying the normal allele together with either an expanded allele with 47 CAGs or an intermediate allele with 37 CAGs, were detected in blood and buccal epithelium from both twins. To our knowledge, this is the first case described of HD gene CAG repeat length mosaicism in blood cells. Haplotype analysis established that the 37 CAG allele most likely arose by contraction of the maternal 47 CAG allele. The contraction must have taken place postzygotically, possibly at a very early stage of development, and probably before separation of the twins. One of the twins has presented symptoms of HD for 4 years; his skin fibroblasts and hair roots carried only the cell line with the 47 CAG repeat allele. The other twin, who is without symptoms at present, displayed mosaicism in skin fibroblasts and hair roots. If the proportion of the two cell lines in the brain of each twin resembles that of their hair roots (another tissue originating from the ectoderm), the mosaicism in the unaffected twin would mean that only a part of his brain cells carried the expanded allele, which could explain why he, in contrast to his brother, has no symptoms at this time.
Central precocious puberty may result from organic brain lesions, but is most frequently of idiop... more Central precocious puberty may result from organic brain lesions, but is most frequently of idiopathic origin. Clinical or biochemical factors which could predict a pathological brain MRI in girls with CPP have been searched for. With the recent decline in age at pubertal onset among US and European girls, it has been suggested that only girls with CPP below 6 years of age should have brain MRI performed. Objective: To evaluate the outcome of brain MRI in girls referred with early signs of puberty in relation to age at presentation as well as clinical and biochemical parameters. Method: A single-center study of 229 consecutive girls with early or precocious puberty who had brain imaging performed. We evaluated medical history, clinical and biochemical factors, and four groups were defined based on the outcome of their MRI. Results: Thirteen out of 208 (6.3%) girls with precocious puberty, but no other sign of CNS symptoms, had a pathological brain MRI. Importantly, all 13 girls were...
Ugeskrift for laeger, 2002
We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of ... more We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.
Ugeskrift for laeger, 2012
Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid ant... more Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia and myoclonus, a steroid trial always seems indicated.
Stroke, 1994
Background and Purpose With proton magnetic resonance spectroscopy it is possible to measure the ... more Background and Purpose With proton magnetic resonance spectroscopy it is possible to measure the content of various brain metabolites in vivo, including N-acetylaspartate (which may be used as a neuronal marker), creatine, choline, and lactate. The content of these brain metabolites was measured serially from the acute stage to the chronic stage of infarction. Regional cerebral blood flow was also measured within the affected areas. These factors were compared with the clinical outcome. Methods Six patients with ischemic stroke were examined serially from the acute stage (s 2 days) to the chronic stage (>6 months) with proton magnetic resonance spectroscopy. Cerebral blood flow was measured with single-photon emission-computed tomography with Tc-labeled <i,/-hexamethylenepropyleneamine oxime as flow tracer. Results Lactate was found in all patients in the acute stage of stroke. Lactate was also found in the 3 largest lesions in the chronic stage; in 2 of these patients lactate was not found in
Background: JC-virus (JCV) associated granular cerebellar neuronopathy (JCV-GCN), which causes se... more Background: JC-virus (JCV) associated granular cerebellar neuronopathy (JCV-GCN), which causes severe ataxia, is a rare complication of severe immunodeficiency and caused by a variant of JCV with a VP1-deletion. JCV-GCN has not yet been reported in patients with autoimmune lymphoproliferative syndrome (ALPS-FAS). We report a 34-year old woman with autoimmune lymphoproliferative syndrome (ALPS-FAS) and common variable immunodeficiency (CVID) who developed JCV-GCN which progressed to fatal progressive multifocal leukoencephalopathy (PML).Methods: Extensive longitudinal virologic, genetic and immunologic characterisation by JCV CSF quantification and sequencing, peripheral blood flowcytometry and exome sequencing. Results: A diagnosis of JCV-GCN was established by findings of severe cerebellar vermis atrophy on MRI and a JCV variant with a VP1-deletion (JCV-VP1) in CSF. During a period of 18 months, at which treatment with high dose immunoglobulin, cidofovir, mirtazapine and high dose ...
Background and Purpose: The early time course after acute stroke of cerebral JV-acetylaspartate, ... more Background and Purpose: The early time course after acute stroke of cerebral JV-acetylaspartate, creatine and phosphocreatine, and compounds containing choline was studied in vivo by means of localized water-suppressed proton magnetic resonance spectroscopy. Methods: Eight patients with acute stroke were studied serially in the acute phase, 1 week after, and 2-4 weeks after the onset of clinical symptoms. Ten healthy volunteers served as controls. A stimulated echo (STEAM) sequence was used for measurement of the brain metabolites in a volume of interest located within the infarcted area as visualized by magnetic resonance imaging. For quantification, the unsaturated water signal was used as the internal standard. Regional cerebral blood flow in the infarcted area was measured relative to a symmetrically located unaffected area by means of single-photon emission computed tomographic scanning, using Tc-labeled </,/-hexamethylenepropyleneamine oxime as the flow tracer. Results: Rel...
Ugeskrift For Laeger, Feb 27, 2012
Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid ant... more Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia and myoclonus, a steroid trial always seems indicated.
Acta Neurochirurgica, 2015
Ugeskrift for laeger, Jan 26, 2002
We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of ... more We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.
The Journal of Headache and Pain, 2011
Ugeskrift for laeger, Jan 27, 2012
Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid ant... more Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia and myoclonus, a steroid trial always seems indicated.
Spine, 1996
A prospective randomized trial with assessment of treatment results by an independent observer an... more A prospective randomized trial with assessment of treatment results by an independent observer and by patient questionnaire. This study evaluated whether implantation of polymethylmethacrylate after anterior cervical discectomy improved clinical results and whether polymethylmethacrylate provided a solid bony union with preservation of anatomical relations of the cervical spine. Discectomy without fusion disturbs anatomical relations of the cervical spine. Use of an autologous bone graft frequently causes donor-site complications. Therefore, synthetic materials such as polymethylmethacrylate have been used instead of bone to obtain spinal fusion. Whether these implants improve the clinical results of anterior discectomy is unknown. In addition, the radiological follow-up of discectomy with polymethylmethacrylate has hardly been investigated. Between April, 1986, and April, 1990, all patients with radiologically proven cervical disc pathology and a radicular syndrome were eligible for this study. The primary endpoint of the study was the clinical result after 2 years. Assessment of the result was rated both by an independent observer using Odom's criteria and by the patient using a written questionnaire. Before surgery and during follow-up, radiographs were obtained. Two patients died during follow up. A good result was obtained in 28 of 42 patients (70%) treated with polymethylmethacrylate and in 30 of 39 patients (77%) of patients treated with discectomy only. Pre-operative neck pain subsided earlier if polymethylmethacrylate was used, but the difference was temporary and clinically insignificant. The use of polymethylmethacrylate resulted in a significant lower bony union rate. Polymethylmethacrylate frequently migrated into adjacent vertebrae. No relevant clinical differences between treatments were found. The radiological results of anterior discectomy with polymethylmethacrylate were inferior to those of discectomy only. Based on these results, the use of polymethylmethacrylate to obtain fusion after anterior discectomy is not recommended.
Magnetic Resonance Imaging, 1992
Localized water suppressed proton spectroscopy has opened up a new field of pathophysiological st... more Localized water suppressed proton spectroscopy has opened up a new field of pathophysiological studies of severe brain ischemia. The signals obtained with the pulse sequences used so far are both T1 and T2 weighted. In order to evaluate the extent to which changes in metabolite signals during the course of infarction can be explained by changes in T1 and T2 relaxation times, eight patients with acute stroke were studied. STEAM sequences with varying echo delay times and repetition times were used to measure T1 and T2 of N-acetyl-aspartate (NAA), creatine plus phosphocreatine (Cr+PCr) and choline containing compounds (CHO) in a 27-ml voxel located in the affected area of the brain. Ten healthy volunteers served as controls. We found no difference in T1 or T2 of the metabolites between the patients and the normal controls. The T2 of CHO was longer than that of NAA and Cr+PCr. Our results indicate that spectra obtained in brain infarcts and normal tissue with the same acquisition parameters are directly comparable with respect to relative signal intensities as well as signals scaled with internal and external standards.
Magnetic Resonance Imaging, 1995
An insert gradient head coil with built-in X, Y, and 2 gradients was used for localized proton sp... more An insert gradient head coil with built-in X, Y, and 2 gradients was used for localized proton spectroscopy in the brain of healthy volunteers, using short echo time stimulated echo acquisition mode (STEAM) sequences. Volume of interest size was 3.4 ml, repetition time was 6.0 s, and echo times were 10 and 20 ms, respectively. Good quality proton spectra with practically no eddy current artefacts were acquired allowing observation of strongly coupled compounds, and compounds with short T2 relaxation times. The gradient head coil thus permits further studies of compounds such as glutamine/glutamate and myo-inositols. These compounds were more prominent within grey matter than within white matter. Rough estimations of metabolite concentrations using water as an internal standard were in good agreement with previous reports.
Magnetic Resonance Imaging, 1999
Quantification of metabolite concentrations by proton magnetic resonance spectroscopy (1H-MRS) in... more Quantification of metabolite concentrations by proton magnetic resonance spectroscopy (1H-MRS) in the human brain using water as an internal standard is based on the assumption that water content does not change significantly in pathologic brain tissue. To test this, we used 1H-MRS to estimate brain water content during the course of cerebral infarction. Measurements were performed serially in the acute, subacute, and chronic phase of infarction. Fourteen patients with acute cerebral infarction were examined as well as 9 healthy controls. To correlate with regional cerebral blood flow (rCBF) SPECT-scanning using 99mTc-HMPAO as flow tracer was performed in the patients. Mean water content (SD) in the infarct area was 37.7 (5.1); 41.8 (4.8); 35.2 (5.4); and 39.3 (5.1) mol x [kg wet weight](-1) at 0-3; 4-7; 8-21; and &amp;gt;180 days after stroke, respectively. Water content increased between Day 0-3 and Day 4-7 (p = 0.034) and decreased from Day 0-3 to Day 8-21 (p = 0.028). Water content at Day 4-7 was significantly higher than in controls (p &amp;lt; or = 0.05). At the same time intervals, mean rCBF (SD) was 76 (23); 94 (31); 106 (35); and 64 (26)%, respectively. There was a significant increase in rCBF from Day 0-3 to Day 4-7 (p = 0.050) and from Day 0-3 to Day 8-21 (p = 0.028). No correlation between rCBF and water content was found. Water content in ischemic brain tissue increased significantly between Day 4-7 after stroke. This should be considered when performing quantitative 1H-MRS using water as an internal standard in stroke patients.
Journal of Neurology, 2006
Using MRI, we evaluated the degree of involvement of muscles in the lower extremities of 18 unsel... more Using MRI, we evaluated the degree of involvement of muscles in the lower extremities of 18 unselected patients with facioscapulohumeral muscular dystrophy (FSHD). Findings were correlated with fragment size of the mutated gene, age, disease duration and muscle power. Most affected muscles were the hamstrings followed by the tibialis anterior and the medial gastrocnemius. The vastus-, gluteal- and peroneal muscles were the most unaffected, and the psoas muscle did not show evidence of involvement in any of the investigated subjects. Asymmetric involvement was evident in 15% of the investigated muscles on MRI and 6% on manual muscle strength testing. MRI findings in muscle tended to correlate with disease duration (r = 0.49; p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.05), but not with gene fragment size or age. MRI disclosed involvement of muscles performing hip flexion and ankle dorsal flexion that could not be detected by manual muscle strength testing. Otherwise, there was a close correlation (approximately r = 0.75; p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.0001) between muscle strength and MRI severity score for other muscle groups. The present study shows that MRI may disclose muscle involvement in FSHD that is not apparent on manual muscle testing, and suggests that MRI of muscle may be an important assessment tool in clinical trials involving patients with FSHD.
Journal of Magnetic Resonance Imaging, 1994
With magnetic resonance (MR) imaging, brain water self-diffusion was measured in 17 healthy volun... more With magnetic resonance (MR) imaging, brain water self-diffusion was measured in 17 healthy volunteers 22-76 (mean, 44.6) years old. The calculated values for the apparent diffusion coefficients (ADCs) ranged from 0.58 x 10(-9) to 1.23 x 10(-9) m2/sec in cerebral white matter. A significant correlation was found between the ADC in white matter and age (r = .7069, P &amp;lt; .01). The calculated values for ADC in cortical gray matter ranged from 1.06 x 10(-9) to 1.72 x 10(-9) m2/sec; no correlation was found between ADCs in gray matter and age. The increased ADC in white matter may be caused by an increase in the extracellular volume due to age-dependent neuronal degeneration or to changes in myelination. These findings have implications for future clinical investigations with diffusion MR imaging techniques in patients with neurologic diseases, and stress the importance of having an age-matched group of healthy volunteers for comparison.
Journal of Magnetic Resonance Imaging, 1992
Eight stroke patients were examined serially in the acute phase and 1 week and 2-4 weeks after st... more Eight stroke patients were examined serially in the acute phase and 1 week and 2-4 weeks after stroke with water-suppressed proton magnetic resonance spectroscopy. The time courses of lactate level and regional cerebral blood flow were studied. A high lactate level was found in the acute phase. The lactate content decreased to barely detectable levels during the following 3 weeks, while regional blood flow increased during this period. The inverse relationship between lactate level and cerebral blood flow suggests that lactate plays no substantial role in the vasodilatation underlying the hyperemia that follows reperfusion. The amount of lactate present in the acute phase reflects the severity of ischemia in the affected region. The lactate level was still above normal in the subacute phase with hyperemia, suggesting lactate production through aerobic glycolysis. Thus, the lactate level in the subacute phase probably does not reflect the degree of anaerobic glycolysis in hypoxic neuronal tissue.
The Journal of Clinical Endocrinology & Metabolism, 2011
Objective: A decrease in age at pubertal onset has been observed internationally. The aim of this... more Objective: A decrease in age at pubertal onset has been observed internationally. The aim of this study was to describe a large cohort of Caucasian girls referred with signs of early puberty according to etiology and compare biochemical characteristics. Methods: In this single-center study, we included 449 consecutive Caucasian girls who were referred with signs of early puberty during the years 1993-2009. We evaluated pubertal stage, height, weight, and bone age. FSH, LH, estradiol, and inhibin B were determined, and a standard GnRH test was performed. Brain magnetic resonance imaging was performed to rule out pathologies. Results: During the period from 1993-2008, we found an increase in the number of girls in most diagnostic groups. Of 449 girls, 88 had central precocious puberty (CPP), and 12 of these had an organic origin. A total of 129 had early-normal variant (8-9 yr), 69 had premature thelarche, and 49 premature adrenarche. Receiver operating characteristic analyses revealed that basal LH was superior in predicting the maximal LH level during GnRH testing in comparison with FSH, estradiol, and inhibin B levels. Basal LH levels were above the age-related 2 SD in 26.2, 19.6, 65.1, and 75.0% of girls with, respectively, early-normal variant, premature thelarche, idiopathic CPP, and organic CPP, but LH levels below the detection limit were also seen among girls with a pubertal GnRH test. Conclusion: We observed an increasing number of girls referred because of early pubertal signs. An elevated basal LH was highly predictive of a pubertal GnRH test result, whereas a low LH did not exclude central pubertal activation.
American Journal of Medical Genetics, 2004
We report on a pair of monozygotic twins belonging to a family segregating Huntington disease (HD... more We report on a pair of monozygotic twins belonging to a family segregating Huntington disease (HD). In routine DNA analysis of blood cells, they displayed three alleles of the CAG repeat sequence in the HD gene. Two different cell lines, carrying the normal allele together with either an expanded allele with 47 CAGs or an intermediate allele with 37 CAGs, were detected in blood and buccal epithelium from both twins. To our knowledge, this is the first case described of HD gene CAG repeat length mosaicism in blood cells. Haplotype analysis established that the 37 CAG allele most likely arose by contraction of the maternal 47 CAG allele. The contraction must have taken place postzygotically, possibly at a very early stage of development, and probably before separation of the twins. One of the twins has presented symptoms of HD for 4 years; his skin fibroblasts and hair roots carried only the cell line with the 47 CAG repeat allele. The other twin, who is without symptoms at present, displayed mosaicism in skin fibroblasts and hair roots. If the proportion of the two cell lines in the brain of each twin resembles that of their hair roots (another tissue originating from the ectoderm), the mosaicism in the unaffected twin would mean that only a part of his brain cells carried the expanded allele, which could explain why he, in contrast to his brother, has no symptoms at this time.