scholarly journals Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

2000 ◽  
Vol 67 (1) ◽  
pp. 229-235 ◽  
Author(s):  
Alexandra Herman-Bert ◽  
Giovanni Stevanin ◽  
Jean-Claude Netter ◽  
Olivier Rascol ◽  
David Brassat ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia

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 17: A clinical Rubik’s cube

2020 ◽  
Vol 2 (1) ◽  
pp. 1-3
Author(s):  
Dr. Rahul Jain ◽  
Dr. Pankaj Rathi ◽  
Dr. Hashash Singh Ishar ◽  
Dr. Kapil Telang ◽  
Dr. Dinesh Chouksey ◽  
...  
Keyword(s):  
Family History ◽  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Huntington Disease ◽  
Autosomal Dominant ◽  
Clinical Spectrum ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Juvenile Parkinsonism ◽  
Rubik’S Cube ◽  
Indian Male

Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.

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.

Sign in / Sign up

Export Citation Format

Share Document