BACKGROUND Multiple episodic ataxia phenotypes and genotypes have been described. OBJECTIVE To describe a new episodic ataxia syndrome. DESIGN Genomewide linkage analysis with dense single nucleotide polymorphism arrays. SETTING University clinic. Patients Family with lifelong episodes of ataxia and normal interictal examination results. RESULTS Suggestive linkage (logarithm of odds sco...

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to th...

Friedreich ataxia, although rare, is the most prevalent inherited ataxia. Recent insight into the disease pathogenesis is creating new hope for effective therapies. The purposes of this update are: (1) to review the etiology, presentation, and progression of Friedreich ataxia and (2) to describe a comprehensive physical therapist examination emphasizing valid and reliable performance measuremen...

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...

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...