Salvatore Giuffrida

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There have been only few studies of brain magnetic resonance imaging (MRI) in spinocerebellar ataxia (SCA) type 2. We investigated 20 SCA2 patients, from 11 Sicilian families, and 20 age-matched control subjects using MRI. Our data confirm that olivopontocerebellar atrophy (OPCA) is the typical pattern in SCA2. We found no significant correlation between(More)
Several authors have recently reported a broad cognitive impairment in autosomal dominant cerebellar ataxias (ADCAs) patients. However, only a few studies on neuropsychological features in spinocerebellar ataxia type 2 (SCA2) patients are present in the current literature. The aim of this study is to evaluate the cognitive impairment in a wide sample of(More)
The aim of this study was to evaluate motor cortex excitability in spinocerebellar ataxia type 2 (SCA2). Cortical silent period (CSP), motor thresholds, and intracortical inhibition and facilitation by paired transcranial magnetic stimulation (TMS) were investigated in 18 SCA2 patients and in 20 controls. The mean CSP duration and motor threshold after TMS(More)
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder mapped on chromosome 12. Different results have been reported in spinocerebellar ataxias following transcranial magnetic stimulation (TMS). TMS-induced cortical silent period (CSP) was prolonged in different cerebellar disorders. Here we evaluate the duration of the(More)
Autosomal dominant cerebellar ataxias (ADCAs) are a complex group of slowly progressive neurodegenerative disorders characterized by gait and stance ataxia, dysarthria and other symptoms of nervous system involvement. ADCA type I is the commonest form and is genetically heterogeneous; several loci have been identified. Spinocerebellar ataxia type 2 (SCA2)(More)
Seven patients with cystic meningioma are reported. The computerized tomography appearance of these meningiomas may mimic that of a glial or metastatic tumor with cystic or necrotic changes, and lead to an incorrect presumptive diagnosis. Radiological evaluation and recognition are important for the surgical removal of these potentially curable neoplasms.
Autosomal dominant cerebellar ataxia type I is the most common form of dominant ataxia. A genetic heterogeneity has been identified with five different loci (SCA1, 2, 3, 4, and 6). A pathological expansion of a CAG sequence has been identified in SCA1, 2, 3, and 6. We performed molecular analysis in 51 families with autosomal dominant cerebellar ataxia type(More)
Cognitive defects in migraine have been reported by several authors. These findings however, are controversial. In this study we carried out an investigation on 14 patients with migraine with aura and 16 with migraine without aura according to the International Headache Society criteria. They were submitted to a comprehensive battery of neuropsychological(More)
Sirs: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease in which, besides motor disturbances, cognition could also be impaired [2–4, 7–9]. Nevertheless, it is unclear whether the cognitive functions of SCA2 patients worsen over time as observed for motor disturbances. Ten subjects (6 men and 4 women; age 57.5 ± 13.7 years, mean ± SD) with(More)
OBJECTIVES To evaluate central motor conduction to lower limbs in spinocerebellar ataxia type 2 (SCA2). METHODS Transcranial magnetic stimulation was performed to study the corticospinal tracts of 18 patients with SCA2. RESULTS Central motor conduction time (CMCT) to lower limbs and thresholds were abnormal in 8 patients (44%); CMCT and thresholds were(More)