Spinocerebellar ataxia 46 in a young female

Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied ocul...

Full description

Saved in:
Bibliographic Details
Published inJournal of neurosciences in rural practice Vol. 14; no. 4; pp. 747 - 749
Main Authors Sowmini, P R, Yellaturi, Sivaroja, Velayutham, S Sakthi, Krishnan, Mugundhan
Format Journal Article
LanguageEnglish
Published United States Scientific Scholar 01.10.2023
Subjects
Case Report
PLD3 gene
SCA 46
Autosomal dominant inheritance
Online AccessGet full text

Cover

More Information
Summary:Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied oculomotor abnormalities. SCA 46 has recently been discovered to be associated with a mutation in phospholipase D 3 gene.
ISSN:0976-3147
0976-3155
DOI:10.25259/JNRP_75_2022