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BACKGROUND AND PURPOSE   The aim of this study was to evaluate the presence of abnormalities in the brain of patients with restless legs syndrome (RLS) using voxel-based morphometry and diffusion tensor imaging (DTI). METHODS   Twenty patients and twenty controls were studied. Voxel-based morphometry analysis was performed using statistical parametric(More)
There is significant evidence that the pathogenesis of several neurodegenerative diseases, including Parkinson's disease, Alzheimer's disease, Friedreich's ataxia (FRDA), multiple sclerosis and amyotrophic lateral sclerosis, may involve the generation of reactive oxygen species (ROS) and/or reactive nitrogen species (RNS) associated with mitochondrial(More)
The early diagnosis of progressive supranuclear palsy (PSP) may be challenging, because of clinical overlapping features with Parkinson's disease (PD) and other parkinsonian syndromes such as the Parkinsonian variant of multiple system atrophy (MSA-P). Conventional MRI can help in differentiating parkinsonian disorders but its diagnostic accuracy is still(More)
Clinical differentiation of parkinsonian syndromes such as the Parkinson variant of multiple system atrophy (MSA-P) and progressive supranuclear palsy (PSP) from Parkinson's disease is difficult in the early stage of the disease. In order to identify objective markers for differential diagnosis, we studied these three groups of patients with(More)
Corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) are two neurodegenerative disorders within the category of tauopathies, which must be considered in differential diagnosis of Parkinson's disease. Although specific clinical and neuroradiological features help to guide the clinician to a likely diagnosis of Parkinson's disease, CBD or(More)
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and(More)
BACKGROUND Brain edema and increased intracranial pressure worsen prognosis in patients with end-stage chronic cirrhosis. OBJECTIVE To use diffusion-weighted imaging (DWI) to quantify water apparent diffusion coefficient (ADC) in different brain regions of patients with chronic liver failure with or without hepatic encephalopathy. METHODS The authors(More)
Dominant optic atrophy has been associated with mutations in the OPA1 gene, which encodes for a dynamin-related GTPase, a mitochondrial protein implicated in the formation and maintenance of mitochondrial network and morphology. We used phosphorus magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in six patients from two unrelated(More)
BACKGROUND Friedreich ataxia (FRDA) is the commonest form of autosomal recessive ataxia. This study aimed to define the extent of the brain damage in FRDA patients and to identify in vivo markers of neurodegeneration, using diffusion-weighted imaging (DWI). METHODS We studied 27 FRDA patients and 21 healthy volunteers using a 1.5 T scanner. Axial DW(More)
Based on a preceding survey performed in 1985, the authors estimated the prevalence and incidence of cluster headache (CH) in the Republic of San Marino (26,628 inhabitants at 31 December 1999). All cases were diagnosed by direct interview according to International Headache Society criteria. The prevalence rate was 56/100,000 (95% CI 31.3 to 92.4), and the(More)