Background: Hereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic inter...

Abstract Background Hereditary ataxia (HA) represents a group of genetically heterogeneous neurodegenerative diseases caused by dysfunction the cerebellum or disruption connection between and other areas central nervous system. Phenotypic manifestation HA includes unsteadiness stance gait, dysarthria, nystagmus, dysmetria complaints clumsiness. There are no specific treatments for HA. Managemen...

CONTEXT Although phenotypic heterogeneity in autosomal dominant spinocerebellar ataxia (SCA) has been explained in part by genotypic heterogeneity, clinical observations suggest the influence of additional factors. OBJECTIVES To demonstrate, quantitate, and localize physiologic abnormalities attributable to nongenetic factors in the development of hereditary SCA. DESIGN Quantitative assessm...

BACKGROUND Anti-glutamic acid decarboxylase antibody (GAD-ab)-associated cerebellar ataxia is a rare neurological disorder characterized by cerebellar symptoms concomitant with high GAD-ab levels in serum and cerebrospinal fluid (CSF). CASE REPORT We report on 2 female siblings (aged 74 and 76 years) presenting with gradual progression of rotational vertigo, gait ataxia and vertical diplopia,...

From the Friedreich's Ataxia Research Group and the Departmenl of Immunology, The London Hospital Medical College. Reprints to: Dr. J.A. Sachs, The London Hospital Medical College. Turner Street. London El 2AD. England. Friedreich's ataxia, one of the heredo-familiar spino-cerebellar diseases, is a progressive degenerative disorder always inherited as an autosomal recessive. Its onset is usuall...

Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the mean age of onset was significantly ea...

Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression mechanisms. Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 (HSV-1) amplicon vectors containing the entire FXN genomi...