Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

ABSTRACT:

Background and objectives

The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the ANO10 gene. Little is known about the molecular role of ANO10 or its role in disease. There is a wide phenotypic spectrum among patients, even among those with the same or similar genetic variants. This study aimed to characterize the molecular consequences of variants in ANO10 and determine their pathologic significance in patients diagnosed with SCAR10.

Methods

We presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic var

SUBMITTER: Massey S 

PROVIDER: S-EPMC9872716 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature