Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India.

ABSTRACT: https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312551-sup-v001_1.htm.

Background

Spinocerebellar ataxia type 12 (SCA12) is a rare form of an autosomal-dominant ataxic disorder associated with an expansion of CAG repeat length. Here, we present a large case series of patients with SCA12 and describe a wide range of typical and rare symptoms.

Methods

Twenty-one consecutive patients with genetically proven SCA12 underwent detailed neurological examination. We assessed clinical characteristics using validated rating scales for evaluating motor features in SCA. Nonmotor symptoms and quality of life were assessed using appropriate, validated scales. Correlations of CAG repeat length with both severity score and age of onset were explored.

Results

The mean

SUBMITTER: Choudhury S 

PROVIDER: S-EPMC6090588 | biostudies-literature | 2018 Jan-Feb

REPOSITORIES: biostudies-literature