Open Access
Spinocerebellar ataxia type 6.
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TLDR
A 39-year-old woman with spinocerebellar ataxia type 6 appears to be the first case reported in Hong Kong, and genetic tests revealed an expanded allele of 24 CAG repeats at the spinocephalus type 6 locus.Abstract:
We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely available and clinical awareness increases, more such patients are expected to be diagnosed.read more
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References
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Journal ArticleDOI
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Harry T. Orr,Ming Yi Chung,Sandro Banfi,Thomas J. Kwiatkowski,Antonio Servadio,Arthur L. Beaudet,Alanna E. McCall,Lisa A. Duvick,Laura P.W. Ranum,Huda Y. Zoghbi +9 more
TL;DR: There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.
Journal ArticleDOI
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel
Olga Zhuchenko,Jennifer Bailey,Penelope E. Bonnen,T. Ashizawa,T. Ashizawa,David W. Stockton,Christopher I. Amos,William B. Dobyns,S. H. Subramony,Huda Y. Zoghbi,Cheng Chi Lee +10 more
TL;DR: It is concluded that a small polyglutamine expansion in the human α1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
Journal ArticleDOI
Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p
Carla Jodice,Elide Mantuano,Liana Veneziano,Flavia Trettel,G. Sabbadini,L. Calandriello,Ada Francia,Maria Spadaro,Francesco Pierelli,Fabrizio Salvi,Roel A. Ophoff,Rune R. Frants,Marina Frontali +12 more
TL;DR: The results show that EA2 and SCA6 are the same disorder with a high phenotypic variability, at least partly related to the number of repeats, and suggest that the small CAG expansions may not be as stable as previously reported.
Journal ArticleDOI
Spinocerebellar ataxia type 6: Gaze‐evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
Christopher M. Gomez,Randall Thompson,Jason T. Gammack,Susan Perlman,William B. Dobyns,Charles L. Truwit,David S. Zee,H. Brent Clark,John H. Anderson +8 more
TL;DR: Clinical and quantitative measurement of extraocular movements demonstrated a characteristic pattern of ocular motor and vestibular abnormalities, including horizontal and vertical nystagmus and an abnormal vestibulo‐ocular reflex, which identifies a distinct phenotype associated with this newly recognized form of dominant SCA.
Journal ArticleDOI
Direct measurement of proton transfer rates to a group controlling the dihydropyridine-sensitive Ca2+ channel.
TL;DR: It is shown that, under appropriate conditions, binding and unbinding reactions of single protons and deuterium ions to a single site on the L-type calcium channel can be resolved and the protonation and deprotonation rates quantified, which considerably exceeds previous estimates obtained in simpler systems.
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