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...

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...

The cerebellum is implicated in maintaining the saccadic subsystem efficient for vision by minimizing movement inaccuracy and by learning from endpoint errors. This ability is often disrupted in degenerative cerebellar diseases, as demonstrated by saccade kinetic abnormalities. The study of saccades in these patients may therefore provide insights into the neural substrate underlying saccadic m...

neurodegenerative disorders, clinically characterized by a cerebellar syndrome with imbalance, unsteady gait and limb incoordination, dysarthria, and disturbed eye movements. Often there are additional neurological or systemic signs, which are highly variable depending on the genetic subtype and on the individual phenotype. The genetic background of heredoataxias has been largely identified dur...