BACKGROUND Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%-50% of all patients with typical episodic ataxia type 2 phenotype have no detectable mutation of the CACNA...

Symptoms and signs of the hypothyroidism vary in relation to the magnitude and acuteness of the thyroid hormone deficiency. The usual clinical features are constipation, fatigue, cold intolerance and weight gain. Rarely it can present with neurologic problems like reversible cerebellar ataxia, dementia, peripheral neuropathy, psychosis and coma. Hypothyroidism should be suspected in all cases o...

IMPORTANCE A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described. OBSERVATIONS Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature.We describe a 47-year-old woman with an 11-year history of ataxia an...

Background. Efficient therapy for both limb and gait ataxia is required. Climbing, a complex task for the whole motor system involving balance, body stabilization, and the simultaneous coordination of all 4 limbs, may have therapeutic potential. Objective. To investigate whether long-term climbing training improves motor function in patients with cerebellar ataxia. Methods. Four patients suffer...

Case presentation: J.A.R, 2 years old, only child of a couple with no history neurological diseases, born at term, pregnancy and delivery without complications, normal development in the first trimester life. At 4 months, delayed neuromotor was noticed, cephalic support, did not follow objects or search for faces, presented tongue fasciculation, hypotonia hyporeflexia. 5 months he had strabismu...

A granular cell tumor (GCT) in the central nervous system (CNS) of a ferret is rare finding. In this case cerebral GCT described 5-year-old castrated female ferret. The animal developed lameness right hind leg which progreseed to total ataxia. died and necropsy revealed mass medial caudal part left frontal lobe brain. Based on histological imunohistochemical findings, was diagnosed as tumor. Im...

OBJECTIVE To characterize humoral response to cerebellum in patients with gluten ataxia. BACKGROUND Gluten ataxia is a common neurologic manifestation of gluten sensitivity. METHODS The authors assessed the reactivity of sera from patients with gluten ataxia (13), newly diagnosed patients with celiac disease without neurologic dysfunction (24), patients with other causes of cerebellar degen...

BACKGROUND AND PURPOSE Multiple system atrophy with predominant cerebellar ataxia is a disabling neurologic disease. However, effective management has not yet been established. We conducted a short-term, open-label preliminary study to assess the benefits of intravenous amantadine treatment in patients with probable multiple system atrophy with predominant cerebellar ataxia. METHODS Twenty pa...

The majority of pedigrees with autosomal dominant cerebellar ataxia (ADCA) harbour a pathological expansion of a trinucleotide repeat at one of five genetic loci: spinocerebellar ataxia (SCA) 1, 2, 3, 6, and 7. Other loci have been associated with ADCA in a limited number of families, but in a significant number of pedigrees the genetic basis remains uncertain. Mitochondrial DNA (mtDNA) defects...