scholarly journals Spinocerebellar Ataxia 2 and 12 Mutations in an Indian Family with Cerebellar Ataxia and Slow Saccades

2014 ◽  
Vol 1 (3) ◽  
pp. 267-270 ◽  
Author(s):  
Mohammed Faruq ◽  
Sunil Shakya ◽  
Ajay Garg ◽  
Achal Kumar Srivastava
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Indian Family ◽  
Spinocerebellar Ataxia 2 ◽  
Slow Saccades

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

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.

scholarly journals Genetic Rhabdomyolysis within the Spectrum of the Spinocerebellar Ataxia Type 2 Responsive to Pregabalin

2021 ◽  
Author(s):  
Fabian Rossi ◽  
Joe Ma ◽  
Nina Tsakadze ◽  
Lourdes Benes-Lima ◽  
Julio Araque Gonzalez ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Clinical Presentation ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset ◽  
Spinocerebellar Ataxia Type 2 ◽  
First Report ◽  
Recurrent Rhabdomyolysis

Abstract BackgroundSpinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. Case presentationWe describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin. ConclusionThis is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin.

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

2001 ◽  
Vol 49 (1) ◽  
pp. 117-121 ◽  
Author(s):  
Hiroto Fujigasaki ◽  
Ishwar C. Verma ◽  
Agn�s Camuzat ◽  
Russell L. Margolis ◽  
Cecilia Zander ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Indian Family

Birth after pre-implantation genetic diagnosis (PGD) of spinocerebellar ataxia 2 (Sca2)

2008 ◽  
Vol 28 (2) ◽  
pp. 126-130 ◽  
Author(s):  
Céline Moutou ◽  
Jean-Christophe Nicod ◽  
Nathalie Gardes ◽  
Stéphane Viville
Keyword(s):  
Spinocerebellar Ataxia ◽  
Genetic Diagnosis ◽  
Spinocerebellar Ataxia 2

Supratentorial and infratentorial damage in spinocerebellar ataxia 2: A diffusion-weighted MRI study

2013 ◽  
Vol 29 (6) ◽  
pp. 780-786 ◽  
Author(s):  
Elena Salvatore ◽  
Enrico Tedeschi ◽  
Carmine Mollica ◽  
Caterina Vicidomini ◽  
Andrea Varrone ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Diffusion Weighted Mri ◽  
Diffusion Weighted ◽  
Mri Study ◽  
Spinocerebellar Ataxia 2

Infantile Onset Spinocerebellar Ataxia 2 (SCA2)

2013 ◽  
Vol 29 (1) ◽  
pp. 139-144 ◽  
Author(s):  
Ankur Singh ◽  
Mohammed Faruq ◽  
Mitali Mukerji ◽  
Manish Kumar Dwivedi ◽  
Sumit Pruthi ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia 2
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