The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal

2013 ◽  
Vol 54 (5) ◽  
pp. 911-915 ◽  
Author(s):  
José Barros ◽  
Luis Ruano ◽  
Joana Domingos ◽  
Assunção Tuna ◽  
Joana Damásio ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Familial Hemiplegic Migraine ◽  
Spinocerebellar Ataxia Type ◽  
Hemiplegic Migraine ◽  
Spinocerebellar Ataxia Type 6

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.

Clinical and molecular features of spinocerebellar ataxia type 6

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1243-1246 ◽  
Author(s):  
G. Stevanin ◽  
A. Dürr ◽  
G. David ◽  
O. Didierjean ◽  
G. Cancel ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Cerebellar Atrophy ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Spinocerebellar Ataxia Type ◽  
Olivopontocerebellar Atrophy ◽  
Molecular Features ◽  
Spinocerebellar Ataxia Type 6

The mutation involved in spinocerebellar ataxia type 6 (SCA6) is a small CAG expansion in the alpha-1A subunit of the voltage-dependent calcium channel gene. We looked for this mutation in 91 families with autosomal-dominant cerebellar ataxias and found that SCA6 is a minor locus in our series (2%) and is rare in France (1%). Furthermore, we did not detect the SCA6 mutation on 146 sporadic cases with isolated cerebellar ataxia or olivopontocerebellar atrophy. The normal and expanded alleles ranged from 4 to 15 and 22 to 28 CAG repeats, respectively, and age at onset was correlated to CAG repeat length (r = -0.87). In contrast with other SCA, the expanded allele was stable during transmission. Clinically, SCA6 patients (n = 12) presented with moderate to severe cerebellar ataxia with a lower frequency of associated signs compared with other SCA and a mean age at onset of 45± 14 years (range, 24 to 67). MRI showed extensive cerebellar atrophy but not of the brainstem or cerebral cortex.

scholarly journals Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia

2017 ◽  
Vol 33 (4) ◽  
pp. 427-436 ◽  
Author(s):  
Zubir S Rentiya ◽  
Brian C Jung ◽  
Junun Bae ◽  
Christine M Liszewski ◽  
Ann Fishman ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Late Onset ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

2008 ◽  
Vol 7 (2) ◽  
pp. 184-188 ◽  
Author(s):  
Caterina Mariotti ◽  
Alfredo Brusco ◽  
Daniela Di Bella ◽  
Claudia Cagnoli ◽  
Marco Seri ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Slow Progression

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
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