Beata Tarnacka - Academia.edu (original) (raw)

Papers by Beata Tarnacka

Acta Neurobiologiae Experimentalis, 2009

Diagnostics, Feb 27, 2023

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Reumatologia, Jul 2, 2023

Polymyositis (PM) and dermatomyositis (DM) are rare idiopathic inflammatory myopathies (IIM). Myo... more Polymyositis (PM) and dermatomyositis (DM) are rare idiopathic inflammatory myopathies (IIM). Myocardial involvement in patients with IIM is an unfavorable prognostic factor and one of the most common cause of mortality in this group of patients. The purpose of this review is to present current knowledge on cardiovascular manifestations observed in IIM. Data published in English until December 2021 were selected. Clinical symptoms suggesting cardiac involvement are non-specific and require a differential diagnosis in accordance with cardiological guidelines. Troponin I is specific to cardiac injury and should be preferred to other markers to evaluate the myocardium in IIM. Abnormalities in electrocardiography are common in IIM, especially non-specific changes of the ST-T segment. In standard echocardiography left ventricular diastolic dysfunction is reported frequently. New diagnostic technologies can reveal clinically silent myocardial abnormalities. However, the prognostic value of subclinical impairment of myocardial function require further studies.

European Journal of Neurology, Sep 1, 2000

The aim of this study was to estimate the level of lipids and of the main serum antioxidant, alph... more The aim of this study was to estimate the level of lipids and of the main serum antioxidant, alpha-tocopherol (vitamin E), and to evaluate the susceptibility of low density lipoprotein (LDL) to oxidation in Wilson's disease patients. It was assumed that enhanced LDL peroxidation caused by high copper levels could contribute to the injury of liver and other tissues. The group investigated comprised 45 individuals with Wilson's disease treated with penicillamine or zinc salts and a control group of 36 healthy individuals. Lipids were determined by enzymatic methods, alpha-tocopherol by high performance liquid chromatography, the susceptibility of LDL to oxidation in vitro by absorption changes at 234 nm during 5 h and end-products of LDL lipid oxidation as thiobarbituric acid reacting substances. In Wilson's disease patients total cholesterol, LDL cholesterol and alpha-tocopherol levels were significantly lower compared with the control group. No difference in LDL oxidation in vitro between the patients and the controls was stated. enhanced susceptibility of isolated LDL for lipid peroxidation in vitro was not observed in Wilson's disease patients. One cannot exclude, however, that because of low alpha-tocopherol level lipid peroxidation in the tissues can play a role in the pathogenesis of tissue injury in this disease.

Movement Disorders, 2006

We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the ... more We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of ATP7B was performed by direct sequencing. A total number of 26 mutations in ATP7B were identified. The p.His1069Gln was the most common mutation (allelic frequency: 72%). Seventythree patients were homozygous for this mutation. Of compound heterozygotes, 37 had frameshift/nonsense mutation, and 20 had other missense mutation on one of their ATP7B alleles. Twelve patients had two non-p.H1069Q mutations. Patients homozygous for the p.H1069Q mutation had the less severe disturbances of copper metabolism and the latest presentation of first WD symptoms. The most severely disturbed copper metabolism and the earliest age at initial disease manifestation was noticed in non-p.H1069Q patients. In compound heterozygotes, the type of mutation coexisting with the p.H1069Q to a small extent influ-encedWD phenotype. The phenotype of WD varied considerably among patients with the same genotype. The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism. In compound heterozygotes, the phenotype of WD to a small extent depends on the type of mutation coexisting with the p.H1069Q. Besides genotype, additional modifying factors seem to determine WD manifestations.

Background: Mood disorders, especially depression, and emotional difficulties such as anxiety are... more Background: Mood disorders, especially depression, and emotional difficulties such as anxiety are very common problems among patients with spinal cord injury (SCI). The loss of physical training may deteriorate their mental state, which in turn has a significant impact on the improvement of functioning. The aim of the present study was to examine the influence of innovative rehabilitation approaches involving robotic assisted gait therapy (RAGT) on mood and anxiety symptoms in pa-tients with SCI. Methods: To this single-centre, single-blinded, single-arm, prospective study, 110 participants with subacute SCI were enrolled; patients were divided into experimental (robotic assisted gait therapy -RAGT) and control (conventional gait therapy with dynamic parapodium - DPT) groups. They received five training sessions per week over 7- weeks. The severity of de-pression was assessed by Depression Assessment Questionnaire (KPD) and anxiety symptoms by State - Trait Anxiety Inventory (STAI X...

Polish annals of medicine, Nov 27, 2023

Ke y w o r d s Sleep Apnea-hypopnea index Tetraparesis Dynamic parapodium Paraparesis Robotic the... more Ke y w o r d s Sleep Apnea-hypopnea index Tetraparesis Dynamic parapodium Paraparesis Robotic therapy D o i

Zenodo (CERN European Organization for Nuclear Research), Mar 24, 2023

www.spartanska.pl © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji im. prof. dr hab. m... more www.spartanska.pl © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji im. prof. dr hab. med. Eleonory Reicher Warszawa 2022 Wszystkie prawa zastrzeżone. Przedruk i kopiowanie bez zgody wydawcy zabronione. Od redaktora Szanowni Czytelnicy! Niniejsza książka jest wyjątkowa nie tylko ze względu na poruszaną tematykę konsekwencji pandemii SARS-CoV-2, ale też dzięki Autorom reprezentującym różne dziedziny wiedzy i doświadczenia pozwala czytelnikowi spojrzeć na problem COVID-19 z wielu perspektyw. Publikowane teksty powstały na podstawie wykładów prezentowanych na konferencji "Pacjent post-COVID-owy, co już wiemy, a co przed nami?", która odbyła się w formie hybrydowej w Narodowym Instytucie Geriatrii, Reumatologii i Rehabilitacji w Warszawie w dniach 14-15 listopada 2022 roku. Była to druga konferencja organizowana przez NIGRiR dzięki grantowi Ministerstwa Edukacji i Nauki w ramach programu "Doskonała Nauka", której tematyka poruszała przede wszystkim problem COVID-19 w aspektach: naukowym, klinicznym i epidemiologicznym. W czasie konferencji omówiono tematy odległych następstw COVID-19, problemów organizacyjnych w ochronie zdrowia wynikających z pandemii oraz możliwości wykorzystania współczesnych narzędzi komunikacyjnych do przepływu wiedzy. Obecnie spojrzenie na to, co przed nami, z dzisiejszym poziomem wiedzy i możliwości, nie jest już tak pesymistyczne, jak na początku pandemii. Liczę na to, że konferencja, w której uczestniczyli specjaliści z różnych dziedzin medycyny, była ciekawym i pożytecznym doświadczeniem dla słuchaczy. Mam też nadzieję, że publikacja będzie równie interesująca i spełni oczekiwania czytelników.

Diagnostics

The improvement of walking ability is a primary goal for spinal cord injury (SCI) patients. Robot... more The improvement of walking ability is a primary goal for spinal cord injury (SCI) patients. Robotic-assisted gait training (RAGT) is an innovative method for its improvement. This study evaluates the influence of RAGT vs. dynamic parapodium training (DPT) in improving gait motor functions in SCI patients. In this single-centre, single-blinded study, we enrolled 105 (39 and 64 with complete and incomplete SCI, respectively) patients. The investigated subjects received gait training with RAGT (experimental S1-group) and DPT (control S0-group), with six training sessions per week over seven weeks. The American Spinal Cord Injury Association Impairment Scale Motor Score (MS), Spinal Cord Independence Measure, version-III (SCIM-III), Walking Index for Spinal Cord Injury, version-II (WISCI-II), and Barthel Index (BI) were assessed in each patient before and after sessions. Patients with incomplete SCI assigned to the S1 rehabilitation group achieved more significant improvement in MS [2.5...

Stroke, 2002

Background and Purpose-The mechanisms of immune reaction involved in the pathogenesis and clinica... more Background and Purpose-The mechanisms of immune reaction involved in the pathogenesis and clinical course of acute vascular incidents are still not completely understood. The aim of this study was to examine the presence of immune complexes (IC) in the acute stroke setting and the first month thereafter and to characterize IC by analyzing the contents of chlamydial lipopolysaccharide and anti-cytomegalovirus (CMV) antibodies in IC. Methods-Serum concentration of IC was investigated in 179 stroke patients, 122 "old" controls and 112 "young" controls, by the precipitation method. The presence of chlamydial lipopolisaccharyde and anti-CMV antibodies was investigated in some IC preparations by the ELISA method after earlier dissociation of IC into components by high pH treatment. Results-Significantly increased serum IC concentration in stroke patients was noticed. Increased serum IC concentration was revealed as an independent strong stroke risk factor and was connected with significantly worse neurological status and increased 30-day mortality rate. A significantly larger proportion of stroke patients than controls had Chlamydia pneumoniae antigen and anti-CMV antibodies in IC. Conclusions-This study provides the first evidence of an association between increased serum level of IC and the clinical course of cerebral ischemia and identifies a potentially important association of C pneumoniae and CMV-specific IC with stroke incidence. (Stroke. 2002;33:936-940.

Parkinsonism & Related Disorders, 2007

Parkinsonism & Related Disorders, 2007

Parkinsonism & Related Disorders, 2009

Wilson's Disease (WD) is a rare autosomal recessive disorder. The literature about proton... more Wilson's Disease (WD) is a rare autosomal recessive disorder. The literature about proton MR spectroscopy (MRS) in WD is based mostly on data derived from patients undergoing treatment. The aim of this study was to identify brain metabolic changes in newly diagnosed WD patients using MRS to elucidate the pathomechanism of the cerebral pathology of WD. The globus pallidus and thalamus of 37 patients with WD were examined bilaterally with MRS. The calculations were performed for: myoinositol (mI), choline (Cho), creatine (Cr), N-acetyl-aspartate (NAA), lipid (Lip), glutamine, and glutamate (Glx). In all WD patients a significantly decreased mI/Cr and NAA/Cr ratio levels and an increased Lip/Cr ratio in the pallidum were observed. Analysis revealed a significantly increased Glx/Cr and Lip/Cr ratio in the thalamus. In the pallidum of neurologically impaired patients, Cho/Cr, Glx/Cr and Lip/Cr ratios were higher than in control subjects, and the NAA/Cr was significantly lower. In hepatic patients, the mI/Cr, Cho/Cr and NAA/Cr ratio levels were lower than in controls. The Cho/Cr and Lip/Cr ratios were higher in the thalami of neurologically impaired patients, and Lip/Cr ratios were higher than controls' in hepatic patients. Both findings were statistically significant. Compared to the thalamus, the basal ganglia are more sensitive to ongoing degenerative changes and portal-systemic encephalopathy in WD. The NAA/Cr reduction in hepatic and neurologically impaired patients could indicate that neurodegeneration is associated with all presentations of WD. In hepatic patients a mI and Cho decrease and in neurological Glx increase can be caused by porto-systemic shunting.

Parkinsonism & Related Disorders, 2009

Movement Disorders, 2008

The aim of this study was to determine the effectiveness of brain proton magnetic resonance spect... more The aim of this study was to determine the effectiveness of brain proton magnetic resonance spectroscopy (1 H-MRS) for monitoring therapy in Wilson's disease (WD) patients. Voxels were located in the globus pallidus (right, left). We followed 17 newly diagnosed WD cases for 1-year period. During this observation period, 6 neurological and 9 hepatic patients improved, while 2 neurological patients deteriorated. The pretreatment 1 H-MRS analysis showed a statistically significant lower level of mI/Cr, NAA/Cr, and higher Lip/Cr in all WD patients with improvement compared with controls. In patients with hepatic signs, a statistically significant increase of mI/Cr and Glx/Cr was observed in the second (1 year posttreatment) 1 H-MRS. In patients with neurological improvement after treatment in the follow-up 1 H-MRS, a statistically significant increase of NAA/Cr was noted. During neurological deterioration, a decrease of Glx/Cr and NAA/Cr was seen, in contrast to another neurologically impaired patient with liver failure exacerbation, where a decrease of mI/Cr and increase of Glx/Cr was observed. The alternations of NAA/Cr ratio in neurologically impaired patients and mI/Cr and Glx/Cr in patients with liver failure could be a sensitive marker of the clinical recovery and deterioration in those WD patients. 1 H-MRS is a technique that can be used for accurate monitoring of treatment efficacy in WD patients.

Metabolic Brain Disease, 2009

Wilson&am... more Wilson's disease (WD) is an autosomal recessive disorder and the WD heterozygote carriers (Hzc) should not exhibit symptoms of the disease. The aim of this study was to assess 12 WD Hzc by brain Proton MR Spectroscopy. In three cases, the levels of caeruloplasmin, and in one case, serum copper, were below our normal range. In two Hzc the aspartate and alanine aminotransferase levels in the blood were slightly increased, however, no ultrasonographic liver changes were detected. The brain metabolite analysis showed a statistically significant higher mean ratio of Glx/Cr and Lip/Cr in MRS in Hzc in both the pallidum and thalami compared to control subjects. Our results suggest that WD Hzc may accumulate free copper in the basal ganglia.

Metabolic Brain Disease, 2010

We reported the brain proton magnetic resonance spectroscopy (MRS) findings in 27 Wilson&... more We reported the brain proton magnetic resonance spectroscopy (MRS) findings in 27 Wilson's disease (WD) patients treated more than 6 years in neurological (nWD) and hepatic (hWD) subgroups. We investigated four hWD patients, with no improvement and eight with marked improvement; and eight nWD patients with marked improvement and seven with no improvement of clinical status. In nWD patients with improvement the MRS showed significantly higher Cho/Cr, Glx/Cr ratios levels. In hWD patients with no improvement the lower Cho/Cr and in nWD significantly lower NAA/Cr and higher Cho/Cr and Lip/Cr ratios were detected. In nWD patients with improvement the spectroscopic pattern, can be related to gliosis. In patients with no neurological improvement a persistent neuronal dysfunction can occur, perhaps as a result of copper or iron deposition.

Journal of the Neurological Sciences, 2009

Acta Neurobiologiae Experimentalis, 2009

Diagnostics, Feb 27, 2023

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Reumatologia, Jul 2, 2023

Polymyositis (PM) and dermatomyositis (DM) are rare idiopathic inflammatory myopathies (IIM). Myo... more Polymyositis (PM) and dermatomyositis (DM) are rare idiopathic inflammatory myopathies (IIM). Myocardial involvement in patients with IIM is an unfavorable prognostic factor and one of the most common cause of mortality in this group of patients. The purpose of this review is to present current knowledge on cardiovascular manifestations observed in IIM. Data published in English until December 2021 were selected. Clinical symptoms suggesting cardiac involvement are non-specific and require a differential diagnosis in accordance with cardiological guidelines. Troponin I is specific to cardiac injury and should be preferred to other markers to evaluate the myocardium in IIM. Abnormalities in electrocardiography are common in IIM, especially non-specific changes of the ST-T segment. In standard echocardiography left ventricular diastolic dysfunction is reported frequently. New diagnostic technologies can reveal clinically silent myocardial abnormalities. However, the prognostic value of subclinical impairment of myocardial function require further studies.

European Journal of Neurology, Sep 1, 2000

The aim of this study was to estimate the level of lipids and of the main serum antioxidant, alph... more The aim of this study was to estimate the level of lipids and of the main serum antioxidant, alpha-tocopherol (vitamin E), and to evaluate the susceptibility of low density lipoprotein (LDL) to oxidation in Wilson's disease patients. It was assumed that enhanced LDL peroxidation caused by high copper levels could contribute to the injury of liver and other tissues. The group investigated comprised 45 individuals with Wilson's disease treated with penicillamine or zinc salts and a control group of 36 healthy individuals. Lipids were determined by enzymatic methods, alpha-tocopherol by high performance liquid chromatography, the susceptibility of LDL to oxidation in vitro by absorption changes at 234 nm during 5 h and end-products of LDL lipid oxidation as thiobarbituric acid reacting substances. In Wilson's disease patients total cholesterol, LDL cholesterol and alpha-tocopherol levels were significantly lower compared with the control group. No difference in LDL oxidation in vitro between the patients and the controls was stated. enhanced susceptibility of isolated LDL for lipid peroxidation in vitro was not observed in Wilson's disease patients. One cannot exclude, however, that because of low alpha-tocopherol level lipid peroxidation in the tissues can play a role in the pathogenesis of tissue injury in this disease.

Movement Disorders, 2006

We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the ... more We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of ATP7B was performed by direct sequencing. A total number of 26 mutations in ATP7B were identified. The p.His1069Gln was the most common mutation (allelic frequency: 72%). Seventythree patients were homozygous for this mutation. Of compound heterozygotes, 37 had frameshift/nonsense mutation, and 20 had other missense mutation on one of their ATP7B alleles. Twelve patients had two non-p.H1069Q mutations. Patients homozygous for the p.H1069Q mutation had the less severe disturbances of copper metabolism and the latest presentation of first WD symptoms. The most severely disturbed copper metabolism and the earliest age at initial disease manifestation was noticed in non-p.H1069Q patients. In compound heterozygotes, the type of mutation coexisting with the p.H1069Q to a small extent influ-encedWD phenotype. The phenotype of WD varied considerably among patients with the same genotype. The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism. In compound heterozygotes, the phenotype of WD to a small extent depends on the type of mutation coexisting with the p.H1069Q. Besides genotype, additional modifying factors seem to determine WD manifestations.

Background: Mood disorders, especially depression, and emotional difficulties such as anxiety are... more Background: Mood disorders, especially depression, and emotional difficulties such as anxiety are very common problems among patients with spinal cord injury (SCI). The loss of physical training may deteriorate their mental state, which in turn has a significant impact on the improvement of functioning. The aim of the present study was to examine the influence of innovative rehabilitation approaches involving robotic assisted gait therapy (RAGT) on mood and anxiety symptoms in pa-tients with SCI. Methods: To this single-centre, single-blinded, single-arm, prospective study, 110 participants with subacute SCI were enrolled; patients were divided into experimental (robotic assisted gait therapy -RAGT) and control (conventional gait therapy with dynamic parapodium - DPT) groups. They received five training sessions per week over 7- weeks. The severity of de-pression was assessed by Depression Assessment Questionnaire (KPD) and anxiety symptoms by State - Trait Anxiety Inventory (STAI X...

Polish annals of medicine, Nov 27, 2023

Ke y w o r d s Sleep Apnea-hypopnea index Tetraparesis Dynamic parapodium Paraparesis Robotic the... more Ke y w o r d s Sleep Apnea-hypopnea index Tetraparesis Dynamic parapodium Paraparesis Robotic therapy D o i

Zenodo (CERN European Organization for Nuclear Research), Mar 24, 2023

www.spartanska.pl © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji im. prof. dr hab. m... more www.spartanska.pl © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji im. prof. dr hab. med. Eleonory Reicher Warszawa 2022 Wszystkie prawa zastrzeżone. Przedruk i kopiowanie bez zgody wydawcy zabronione. Od redaktora Szanowni Czytelnicy! Niniejsza książka jest wyjątkowa nie tylko ze względu na poruszaną tematykę konsekwencji pandemii SARS-CoV-2, ale też dzięki Autorom reprezentującym różne dziedziny wiedzy i doświadczenia pozwala czytelnikowi spojrzeć na problem COVID-19 z wielu perspektyw. Publikowane teksty powstały na podstawie wykładów prezentowanych na konferencji "Pacjent post-COVID-owy, co już wiemy, a co przed nami?", która odbyła się w formie hybrydowej w Narodowym Instytucie Geriatrii, Reumatologii i Rehabilitacji w Warszawie w dniach 14-15 listopada 2022 roku. Była to druga konferencja organizowana przez NIGRiR dzięki grantowi Ministerstwa Edukacji i Nauki w ramach programu "Doskonała Nauka", której tematyka poruszała przede wszystkim problem COVID-19 w aspektach: naukowym, klinicznym i epidemiologicznym. W czasie konferencji omówiono tematy odległych następstw COVID-19, problemów organizacyjnych w ochronie zdrowia wynikających z pandemii oraz możliwości wykorzystania współczesnych narzędzi komunikacyjnych do przepływu wiedzy. Obecnie spojrzenie na to, co przed nami, z dzisiejszym poziomem wiedzy i możliwości, nie jest już tak pesymistyczne, jak na początku pandemii. Liczę na to, że konferencja, w której uczestniczyli specjaliści z różnych dziedzin medycyny, była ciekawym i pożytecznym doświadczeniem dla słuchaczy. Mam też nadzieję, że publikacja będzie równie interesująca i spełni oczekiwania czytelników.

Diagnostics

The improvement of walking ability is a primary goal for spinal cord injury (SCI) patients. Robot... more The improvement of walking ability is a primary goal for spinal cord injury (SCI) patients. Robotic-assisted gait training (RAGT) is an innovative method for its improvement. This study evaluates the influence of RAGT vs. dynamic parapodium training (DPT) in improving gait motor functions in SCI patients. In this single-centre, single-blinded study, we enrolled 105 (39 and 64 with complete and incomplete SCI, respectively) patients. The investigated subjects received gait training with RAGT (experimental S1-group) and DPT (control S0-group), with six training sessions per week over seven weeks. The American Spinal Cord Injury Association Impairment Scale Motor Score (MS), Spinal Cord Independence Measure, version-III (SCIM-III), Walking Index for Spinal Cord Injury, version-II (WISCI-II), and Barthel Index (BI) were assessed in each patient before and after sessions. Patients with incomplete SCI assigned to the S1 rehabilitation group achieved more significant improvement in MS [2.5...

Stroke, 2002

Background and Purpose-The mechanisms of immune reaction involved in the pathogenesis and clinica... more Background and Purpose-The mechanisms of immune reaction involved in the pathogenesis and clinical course of acute vascular incidents are still not completely understood. The aim of this study was to examine the presence of immune complexes (IC) in the acute stroke setting and the first month thereafter and to characterize IC by analyzing the contents of chlamydial lipopolysaccharide and anti-cytomegalovirus (CMV) antibodies in IC. Methods-Serum concentration of IC was investigated in 179 stroke patients, 122 "old" controls and 112 "young" controls, by the precipitation method. The presence of chlamydial lipopolisaccharyde and anti-CMV antibodies was investigated in some IC preparations by the ELISA method after earlier dissociation of IC into components by high pH treatment. Results-Significantly increased serum IC concentration in stroke patients was noticed. Increased serum IC concentration was revealed as an independent strong stroke risk factor and was connected with significantly worse neurological status and increased 30-day mortality rate. A significantly larger proportion of stroke patients than controls had Chlamydia pneumoniae antigen and anti-CMV antibodies in IC. Conclusions-This study provides the first evidence of an association between increased serum level of IC and the clinical course of cerebral ischemia and identifies a potentially important association of C pneumoniae and CMV-specific IC with stroke incidence. (Stroke. 2002;33:936-940.

Parkinsonism & Related Disorders, 2007

Parkinsonism & Related Disorders, 2007

Parkinsonism & Related Disorders, 2009

Wilson's Disease (WD) is a rare autosomal recessive disorder. The literature about proton... more Wilson's Disease (WD) is a rare autosomal recessive disorder. The literature about proton MR spectroscopy (MRS) in WD is based mostly on data derived from patients undergoing treatment. The aim of this study was to identify brain metabolic changes in newly diagnosed WD patients using MRS to elucidate the pathomechanism of the cerebral pathology of WD. The globus pallidus and thalamus of 37 patients with WD were examined bilaterally with MRS. The calculations were performed for: myoinositol (mI), choline (Cho), creatine (Cr), N-acetyl-aspartate (NAA), lipid (Lip), glutamine, and glutamate (Glx). In all WD patients a significantly decreased mI/Cr and NAA/Cr ratio levels and an increased Lip/Cr ratio in the pallidum were observed. Analysis revealed a significantly increased Glx/Cr and Lip/Cr ratio in the thalamus. In the pallidum of neurologically impaired patients, Cho/Cr, Glx/Cr and Lip/Cr ratios were higher than in control subjects, and the NAA/Cr was significantly lower. In hepatic patients, the mI/Cr, Cho/Cr and NAA/Cr ratio levels were lower than in controls. The Cho/Cr and Lip/Cr ratios were higher in the thalami of neurologically impaired patients, and Lip/Cr ratios were higher than controls' in hepatic patients. Both findings were statistically significant. Compared to the thalamus, the basal ganglia are more sensitive to ongoing degenerative changes and portal-systemic encephalopathy in WD. The NAA/Cr reduction in hepatic and neurologically impaired patients could indicate that neurodegeneration is associated with all presentations of WD. In hepatic patients a mI and Cho decrease and in neurological Glx increase can be caused by porto-systemic shunting.

Parkinsonism & Related Disorders, 2009

Movement Disorders, 2008

The aim of this study was to determine the effectiveness of brain proton magnetic resonance spect... more The aim of this study was to determine the effectiveness of brain proton magnetic resonance spectroscopy (1 H-MRS) for monitoring therapy in Wilson's disease (WD) patients. Voxels were located in the globus pallidus (right, left). We followed 17 newly diagnosed WD cases for 1-year period. During this observation period, 6 neurological and 9 hepatic patients improved, while 2 neurological patients deteriorated. The pretreatment 1 H-MRS analysis showed a statistically significant lower level of mI/Cr, NAA/Cr, and higher Lip/Cr in all WD patients with improvement compared with controls. In patients with hepatic signs, a statistically significant increase of mI/Cr and Glx/Cr was observed in the second (1 year posttreatment) 1 H-MRS. In patients with neurological improvement after treatment in the follow-up 1 H-MRS, a statistically significant increase of NAA/Cr was noted. During neurological deterioration, a decrease of Glx/Cr and NAA/Cr was seen, in contrast to another neurologically impaired patient with liver failure exacerbation, where a decrease of mI/Cr and increase of Glx/Cr was observed. The alternations of NAA/Cr ratio in neurologically impaired patients and mI/Cr and Glx/Cr in patients with liver failure could be a sensitive marker of the clinical recovery and deterioration in those WD patients. 1 H-MRS is a technique that can be used for accurate monitoring of treatment efficacy in WD patients.

Metabolic Brain Disease, 2009

Wilson&am... more Wilson's disease (WD) is an autosomal recessive disorder and the WD heterozygote carriers (Hzc) should not exhibit symptoms of the disease. The aim of this study was to assess 12 WD Hzc by brain Proton MR Spectroscopy. In three cases, the levels of caeruloplasmin, and in one case, serum copper, were below our normal range. In two Hzc the aspartate and alanine aminotransferase levels in the blood were slightly increased, however, no ultrasonographic liver changes were detected. The brain metabolite analysis showed a statistically significant higher mean ratio of Glx/Cr and Lip/Cr in MRS in Hzc in both the pallidum and thalami compared to control subjects. Our results suggest that WD Hzc may accumulate free copper in the basal ganglia.

Metabolic Brain Disease, 2010

We reported the brain proton magnetic resonance spectroscopy (MRS) findings in 27 Wilson&... more We reported the brain proton magnetic resonance spectroscopy (MRS) findings in 27 Wilson's disease (WD) patients treated more than 6 years in neurological (nWD) and hepatic (hWD) subgroups. We investigated four hWD patients, with no improvement and eight with marked improvement; and eight nWD patients with marked improvement and seven with no improvement of clinical status. In nWD patients with improvement the MRS showed significantly higher Cho/Cr, Glx/Cr ratios levels. In hWD patients with no improvement the lower Cho/Cr and in nWD significantly lower NAA/Cr and higher Cho/Cr and Lip/Cr ratios were detected. In nWD patients with improvement the spectroscopic pattern, can be related to gliosis. In patients with no neurological improvement a persistent neuronal dysfunction can occur, perhaps as a result of copper or iron deposition.

Journal of the Neurological Sciences, 2009