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A patient homozygous for the SCA6 gene with retinitis pigmentosa
Author(s) -
Fukutake T,
Kamitsukasa I,
Arai K,
Hattori T,
Nakajima T
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.610510.x
Subject(s) - retinitis pigmentosa , nystagmus , retinal degeneration , genetics , nephronophthisis , allele , ataxia , usher syndrome , cerebellar ataxia , medicine , biology , audiology , gene , psychiatry , phenotype
The present authors studied a 55‐year‐old‐patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X‐linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.