the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...

hereditary ataxias are heterogeneous group of neurodegenerative disorders classified mainly into more than 40 autosomal dominant cerebellar ataxias and 50 recessive ataxias. large amount of nearly uncommon subtypes with extensive phenotypic overlap and relatively high rate of abnormal repetitive sequence expansions, such as trinucleotide repeat expansions make diagnostic genetic testing complic...

A population-based, cross-sectional study was performed in southeast Norway, between January 2002 and February 2008, to identify subjects with hereditary ataxia and hereditary spastic paraplegia, and to estimate the prevalence of these disorders. Patients were recruited through colleagues, families, searches in computerized hospital archives and the National Patients' Association for Hereditary...

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present electrophysiologic findings Turkish family ARSACS in combination clinical genetic features to better describe characte...

PURPOSE Gluten sensitivity (GS) is related to the pathogenesis of sporadic or hereditary ataxia. METHODS Total of 194 healthy controls and patients with either hereditary ataxia (n=207) or sporadic ataxia (n=361) were tested for the circulating gluten-related autoantibodies which serve as biomarkers to interpret the existence of GS. RESULTS The incidences of GS in each population were 1% in...

An Indian family with four members having hereditary ataxia was presented. The inheritance was most likely autosomal dominant. The onset was at adult life. The main disability was cerebellar ataxia with pyramidal tract sign found at physical examination. Electroencephalography and nerve conduction study were abnormal in two cases where they were done. The clinical feature correspond to an inter...

Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia suspected when typical symptom of with concurrent identified, it sometimes difficult to diagnose without test. Clinically, next generation sequencing technology has been developed widely used for diagnosis disease. Hereby, we experienced cases genetically confirmed <i...