scholarly journals Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

2003 ◽  
Vol 100 (1-4) ◽  
pp. 147-153 ◽  
Author(s):  
E. Mantuano ◽  
L. Veneziano ◽  
C. Jodice ◽  
M. Frontali
Keyword(s):  
Spinocerebellar Ataxia ◽  
Episodic Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Allelic Disorders

scholarly journals Spinocerebellar Ataxia Type 6 and Episodic Ataxia Type 2 in a Korean Family

2001 ◽  
Vol 16 (6) ◽  
pp. 809 ◽  
Author(s):  
Seong Ho Koh ◽  
Hee Tae Kim ◽  
Seung Hyun Kim ◽  
Gyu Yong Lee ◽  
Juhan Kim ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Episodic Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Korean Family ◽  
Spinocerebellar Ataxia Type 6 ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

Spinocerebellar ataxia type 6

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1247-1251 ◽  
Author(s):  
D. H. Geschwind ◽  
S. Perlman ◽  
K. P. Figueroa ◽  
J. Karrim ◽  
R. W. Baloh ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Episodic Ataxia ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Imaging Data ◽  
Spinocerebellar Ataxia Type 6 ◽  
Episodic Ataxia Type 2 ◽  
Progressive Ataxia ◽  
Expanded Allele ◽  
Episodic Course

Spinocerebellar ataxia type 6 (SCA6) is the most recently identified mutation causing autosomal-dominant cerebellar ataxia without retinal degeneration (ADCA). The SCA6 mutation is allelic with episodic ataxia type 2(EA-2), but the two differ clinically because of the presence of progressive, rather than episodic, ataxia in SCA6. SCA6 accounts for 12% of families with ADCA in an ethnically heterogeneous population of patients. Clinical examination, quantitative eye movement testing, and imaging data show that the brainstem is normal in most patients with SCA6, especially within the first 10 years of symptoms. Most patients show progressive ataxia from the onset, but several patients show an episodic course resembling EA-2. Thus, SCA6 mutations not only account for patients with ADCA I and ADCA III phenotypes but also for some patients presenting with episodic features that are typical for EA-2. Interestingly, a compound heterozygote for the SCA6 expansion manifested an earlier onset and more rapid course than family members with the same larger expanded allele.

scholarly journals Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

2017 ◽  
Vol 161 (1) ◽  
pp. 107-110 ◽  
Author(s):  
Andrea Petrovicova ◽  
Miroslav Brozman ◽  
Egon Kurca ◽  
Tibor Gobo ◽  
Jana Dluha ◽  
...  
Keyword(s):  
Missense Variant ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

2010 ◽  
Vol 64 (2) ◽  
pp. 114-116 ◽  
Author(s):  
Julien Jung ◽  
Hervé Testard ◽  
Elisabeth Tournier-Lasserve ◽  
Florence Riant ◽  
Anne-Evelyne Vallet ◽  
...  
Keyword(s):  
Family Study ◽  
Phenotypic Variability ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type
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