Open AccessSpinocerebellar ataxia type-7: Report of a family in Northwest Nigeria
Author(s) -
Nura H. Alkali,
Sunday A Bwala,
Saeed A Alimi,
Shyngle Oyakhire
Publication year - 2016
Publication title -
annals of african medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.433
H-Index - 26
ISSN - 1596-3519
DOI - 10.4103/1596-3519.176205
Subject(s) - medicine , proband , spinocerebellar ataxia , cerebellum , cerebellar ataxia , ataxia , dementia , allele , pediatrics , genetics , pathology , mutation , disease , psychiatry , biology , gene
Spinocerebellar ataxia type-7 (SCA7) is a cytosine-adenine-guanine (CAG) repeat polyglutamine disorder characterized by progressive degeneration of the cerebellum, brainstem, spinal cord, and retina. Clinical features include progressive ataxia, visual loss, pyramidal weakness, sensory impairment, and dementia. Among the autosomal dominant cerebellar ataxias, SCA7 is relatively common in Scandinavia and South Africa but rare worldwide and is not previously reported in Nigeria. In this study, we describe a family in Katsina State, Northwest Nigeria, with nine individuals across three generations affected by the SCA7 phenotype. Analysis of DNA from proband and two affected relatives revealed 39 CAG repeat expansions in one allele of ataxin-7 in each.