A. Galbussera - Academia.edu (original) (raw)

Papers by A. Galbussera

Research paper thumbnail of Multiple brain lesions with central calcification: can you hit the target?

A 61-year-old woman, previously in good health, insidiously developed a left inferior quadrantano... more A 61-year-old woman, previously in good health, insidiously developed a left inferior quadrantanopsia over a number of weeks. Except for this visual defect, her neurological examination was unremarkable. A brain CT and MR scan were then a b c The same lesions appearing calcified at the CT scan (a) were hypointense in T2 (b) and T1 (c) at the brain MR. In post-contrast T1weighted images, the calcified centres of the lesions are hypointense or isointense with a surrounding ring of enhancement. The left anterior basal ganglia lesion seen in the coronal section is hypointense, probably because of a necrotic central area which is markedly hyperintense in the T2-weighted section

Research paper thumbnail of Is elevated post-methionine load homocysteinaemia a risk factor for cervical artery dissection?

Neurological Sciences, 2006

Cervical artery dissection (CAD) represents one of the most frequent causes of stroke in young ad... more Cervical artery dissection (CAD) represents one of the most frequent causes of stroke in young adults. Although traumas are known to be main risk factors for developing CAD, spontaneous idiopathic forms, probably related to arterial wall diseases, have been described as well, actually representing the major quota.

Research paper thumbnail of Isolated bilateral anterior optic neuritis following chickenpox in an immunocompetent adult

Neurological Sciences, 2006

Chickenpox may lead to several different neurological complications, but optic neuritis has rarel... more Chickenpox may lead to several different neurological complications, but optic neuritis has rarely been described; in particular, only one case of isolated bilateral anterior optic neuritis (AON) in an immune-competent adult has so far been reported. We describe a second case of this type and consider similarities and differences between our patient and all other cases of AON following chickenpox. Then, we discuss the therapeutic role of steroids and advance the hypothesis of different pathogenetic pathways in immune-competent and immunecompromised subjects.

Research paper thumbnail of An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

Neurological Sciences, 2007

Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopha... more Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be

Research paper thumbnail of Rapidly cycling encephalopathy from an almost forgotten entity

Neurological Sciences, 2008

An 81-year-old woman came to our attention for the sudden onset of marked somnolence associated t... more An 81-year-old woman came to our attention for the sudden onset of marked somnolence associated to loss of bladder control, in the absence of fever or other symptoms. Both the head CT scan and routine blood tests (comprehensive of cell blood count, kidney and liver function, and glucose) were uninformative. During observation in the ER, the state of vigilance rapidly deteriorated and clonic movements of both arms were observed; she was promptly treated with ev diazepam with slow remission of the symptoms. Past medical history documented: hysteroannessiectomy with partial removal of the bladder and ureterosigmoidostomy for a suspected endometrial cancer at age 56; and lumbar interlaminar herniectomy at age 67.

Research paper thumbnail of Oxidative stress in peripheral blood mononuclear cells from patients with Parkinson's disease: Negative correlation with levodopa dosage

Neurobiology of Disease, 2006

Oxidative stress, resulting from the imbalance between reactive oxygen species (ROS) formation an... more Oxidative stress, resulting from the imbalance between reactive oxygen species (ROS) formation and antioxidant defenses, plays a major role in the pathogenesis of Parkinson's disease (PD). However, the contribution of levodopa (LD) therapy to oxidative damage is still debated. We investigated oxidative stress in peripheral blood mononuclear cells (PBMCs) from LD-treated PD patients and healthy subjects. Increased ROS production associated with unaltered glutathione reductase activity was detected in PBMC from PD patients. LD daily dosage appeared to be inversely correlated with ROS levels and positively associated with GR activity, suggesting a protective role for LD on PBMCs redox status. Our data support the view of systemic oxidative stress involvement in PD and give further rationale for using PBMCs as an easily accessible ex-vivo dopaminergic model for exploring the biological effects of LD therapy. D

Research paper thumbnail of Third cranial nerve palsy? Look for a sicca syndrome

Journal of the Neurological Sciences, 2007

Sjogren's syndrome (SS) is a systemic autoimmune disorder, and neurological involvement may frequ... more Sjogren's syndrome (SS) is a systemic autoimmune disorder, and neurological involvement may frequently occur. Here we describe a 79year-old woman who came to our attention for a sudden right incomplete 3rd cranial nerve palsy. Following extensive investigations, a diagnosis of primary SS was reached, and the patient recovered after treatment with ev Ig and steroids. Therefore, we suggest that SS should be considered in apparently idiopathic 3rd cranial nerve palsies, since, with the appropriate treatment, they might be transient and reversible.

Research paper thumbnail of Higher Than Expected Progranulin Mutation Rate in a Case Series of Italian FTLD Patients

Alzheimer Disease & Associated Disorders, 2009

Research paper thumbnail of Vitamin E intake and quality of life in amyotrophic lateral sclerosis patients: a follow-up case series study

Neurological Sciences, 2006

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder involving both upper and lowe... more Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder involving both upper and lower motor neurons, leading inexorably to death within a few years. Although our understanding of the pathogenesis of this disease has grown at a very fast rate in recent years, we do not yet have effective treatment options that can positively impact the quality of life (QoL) of these patients. Interestingly, increasing experimental evidence suggests that oxidative stress is involved in the pathogenesis of ALS and that vitamin E could reduce neuronal damage. Hence, in this observational study we determined the QoL in 33 ALS patients taking or not taking vitamin E supplementation (600 mg/day), using the Italian version of the Short-Form 36-Item Health Survey (SF-36). No differences were seen between the two groups of patients, therefore we do not recommend routine use of vitamin E in ALS patients, at least in the absence of randomised clinical trials specifically designed for addressing this issue.

Research paper thumbnail of Multiple brain lesions with central calcification: can you hit the target?

A 61-year-old woman, previously in good health, insidiously developed a left inferior quadrantano... more A 61-year-old woman, previously in good health, insidiously developed a left inferior quadrantanopsia over a number of weeks. Except for this visual defect, her neurological examination was unremarkable. A brain CT and MR scan were then a b c The same lesions appearing calcified at the CT scan (a) were hypointense in T2 (b) and T1 (c) at the brain MR. In post-contrast T1weighted images, the calcified centres of the lesions are hypointense or isointense with a surrounding ring of enhancement. The left anterior basal ganglia lesion seen in the coronal section is hypointense, probably because of a necrotic central area which is markedly hyperintense in the T2-weighted section

Research paper thumbnail of Is elevated post-methionine load homocysteinaemia a risk factor for cervical artery dissection?

Neurological Sciences, 2006

Cervical artery dissection (CAD) represents one of the most frequent causes of stroke in young ad... more Cervical artery dissection (CAD) represents one of the most frequent causes of stroke in young adults. Although traumas are known to be main risk factors for developing CAD, spontaneous idiopathic forms, probably related to arterial wall diseases, have been described as well, actually representing the major quota.

Research paper thumbnail of Isolated bilateral anterior optic neuritis following chickenpox in an immunocompetent adult

Neurological Sciences, 2006

Chickenpox may lead to several different neurological complications, but optic neuritis has rarel... more Chickenpox may lead to several different neurological complications, but optic neuritis has rarely been described; in particular, only one case of isolated bilateral anterior optic neuritis (AON) in an immune-competent adult has so far been reported. We describe a second case of this type and consider similarities and differences between our patient and all other cases of AON following chickenpox. Then, we discuss the therapeutic role of steroids and advance the hypothesis of different pathogenetic pathways in immune-competent and immunecompromised subjects.

Research paper thumbnail of An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

Neurological Sciences, 2007

Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopha... more Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be

Research paper thumbnail of Rapidly cycling encephalopathy from an almost forgotten entity

Neurological Sciences, 2008

An 81-year-old woman came to our attention for the sudden onset of marked somnolence associated t... more An 81-year-old woman came to our attention for the sudden onset of marked somnolence associated to loss of bladder control, in the absence of fever or other symptoms. Both the head CT scan and routine blood tests (comprehensive of cell blood count, kidney and liver function, and glucose) were uninformative. During observation in the ER, the state of vigilance rapidly deteriorated and clonic movements of both arms were observed; she was promptly treated with ev diazepam with slow remission of the symptoms. Past medical history documented: hysteroannessiectomy with partial removal of the bladder and ureterosigmoidostomy for a suspected endometrial cancer at age 56; and lumbar interlaminar herniectomy at age 67.

Research paper thumbnail of Oxidative stress in peripheral blood mononuclear cells from patients with Parkinson's disease: Negative correlation with levodopa dosage

Neurobiology of Disease, 2006

Oxidative stress, resulting from the imbalance between reactive oxygen species (ROS) formation an... more Oxidative stress, resulting from the imbalance between reactive oxygen species (ROS) formation and antioxidant defenses, plays a major role in the pathogenesis of Parkinson's disease (PD). However, the contribution of levodopa (LD) therapy to oxidative damage is still debated. We investigated oxidative stress in peripheral blood mononuclear cells (PBMCs) from LD-treated PD patients and healthy subjects. Increased ROS production associated with unaltered glutathione reductase activity was detected in PBMC from PD patients. LD daily dosage appeared to be inversely correlated with ROS levels and positively associated with GR activity, suggesting a protective role for LD on PBMCs redox status. Our data support the view of systemic oxidative stress involvement in PD and give further rationale for using PBMCs as an easily accessible ex-vivo dopaminergic model for exploring the biological effects of LD therapy. D

Research paper thumbnail of Third cranial nerve palsy? Look for a sicca syndrome

Journal of the Neurological Sciences, 2007

Sjogren's syndrome (SS) is a systemic autoimmune disorder, and neurological involvement may frequ... more Sjogren's syndrome (SS) is a systemic autoimmune disorder, and neurological involvement may frequently occur. Here we describe a 79year-old woman who came to our attention for a sudden right incomplete 3rd cranial nerve palsy. Following extensive investigations, a diagnosis of primary SS was reached, and the patient recovered after treatment with ev Ig and steroids. Therefore, we suggest that SS should be considered in apparently idiopathic 3rd cranial nerve palsies, since, with the appropriate treatment, they might be transient and reversible.

Research paper thumbnail of Higher Than Expected Progranulin Mutation Rate in a Case Series of Italian FTLD Patients

Alzheimer Disease & Associated Disorders, 2009

Research paper thumbnail of Vitamin E intake and quality of life in amyotrophic lateral sclerosis patients: a follow-up case series study

Neurological Sciences, 2006

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder involving both upper and lowe... more Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder involving both upper and lower motor neurons, leading inexorably to death within a few years. Although our understanding of the pathogenesis of this disease has grown at a very fast rate in recent years, we do not yet have effective treatment options that can positively impact the quality of life (QoL) of these patients. Interestingly, increasing experimental evidence suggests that oxidative stress is involved in the pathogenesis of ALS and that vitamin E could reduce neuronal damage. Hence, in this observational study we determined the QoL in 33 ALS patients taking or not taking vitamin E supplementation (600 mg/day), using the Italian version of the Short-Form 36-Item Health Survey (SF-36). No differences were seen between the two groups of patients, therefore we do not recommend routine use of vitamin E in ALS patients, at least in the absence of randomised clinical trials specifically designed for addressing this issue.