The Enigma of Spinocerebellar Ataxia Type 6

2007 ◽  
pp. 233-250
Author(s):  
Marina Frontali
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6

Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6

Gene ◽  
2006 ◽  
Vol 380 (1) ◽  
pp. 54-61 ◽  
Author(s):  
Eva Andrés-Mateos ◽  
Jesús Cruces ◽  
Jaime Renart ◽  
Luisa M. Solís-Garrido ◽  
Rocío Serantes ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Spinocerebellar Ataxia ◽  
Cag Repeats ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Cacna1a Gene

scholarly journals Spinocerebellar ataxia type 6 in Brazil

2008 ◽  
Vol 66 (3b) ◽  
pp. 691-694 ◽  
Author(s):  
Hélio A.G. Teive ◽  
Renato Puppi Munhoz ◽  
Salmo Raskin ◽  
Lineu César Werneck
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Late Onset ◽  
Cag Repeat ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Voltage Dependent ◽  
Pure Cerebellar Ataxia ◽  
Japanese Ancestry

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.

Spinocerebellar ataxia type 6: founder effect in Western Japan

2001 ◽  
Vol 185 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Masatada Mori ◽  
Yoshiki Adachi ◽  
Masayoshi Kusumi ◽  
Kenji Nakashima
Keyword(s):  
Spinocerebellar Ataxia ◽  
Founder Effect ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Western Japan
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