Late onset autosomal dominant cerebellar ataxia a family description and linkage analysis with the hla system

Abstract

A family suffering an autosomal dominant form of late onset hereditary cerebellar ataxia is described. Eight affected family members were personally studied, and data from another four were obtained through anamnesis. The mean age of onset was 37.1 +/- 5.4 years (27-47 years). The clinical picture consisted basically of a pure ataxic cerebellar syndrome. CT-scan disclosed diffuse cerebellar atrophy with relative sparing of the brainstem and no involvement of supratentorial structures. Neurophysiological studies (nerve conduction, VEP and BAEP) were normal. Twenty-six individuals were typed for HLA histocompatibility antigens. Lod scores were calculated with the computer program LINKMAP. Close linkage of the ataxia gene with the HLA system in this family could be excluded--0 = 0.02, z = (-2.17)--and the overall analysis of the lod scores suggest another chromosomal location than chromosome 6.

Central auditory processing in patients with spinocerebellar ataxia

“…Consistent with prior studies Arruda et al (1991) spasticity, and impaired attention, memory, and concentration of varying severity. In many patients, SCA is progressive, suggesting that central auditory system deterioration may have a progressive character, at least in some patients.…”

“…Subtype prevalence rates vary among geographic regions. For example, M A N U S C R I P T A C C E P T E D (Arruda et al, 1991;Klockgether, 2000;Teive, 2009;Teive et al, 2010;Magana et al, 2012).…”

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene

“…This report was published by Arruda et al in 1991, where eight affected members of a large family coming from the coastal region of Santa Catarina (São Francisco county) were affected by an autosomal dominant form of late onset pure cerebellar ataxia 15 . Later, the Study Group for the Hereditary Ataxias diagnosed in another families a quite similar clinical presentation of late onset pure cerebellar ataxia.…”

“…In 1992, a collaborative work with the Genetic Unit (Prof. Anita Harding), at the Institute of Neurology, Queen Square, London, was started and the fi rst family 15 with SCA type 10 was genetically evaluated for types 3, and later 1 and 2, which loci were already known by that time, and the results were negative. Figure shows the letter of Prof. Anita Harding reporting the negative results of those molecular genetic studies.…”