Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

ABSTRACT:

Background

Cerebellar atrophy is a nonspecific imaging finding observed in a number of neurological disorders. Genetic ataxias associated with cerebellar atrophy are a heterogeneous group of conditions, rendering the approach to diagnosis challenging.

Objectives

To define the spectrum of genetic ataxias associated with cerebellar atrophy in a Canadian cohort and the diagnostic yield of exome sequencing for this group of conditions.

Methods

A total of 92 participants from 66 families with cerebellar atrophy were recruited for this multicenter prospective cohort study. Exome sequencing was performed for all participants between 2011 and 2017 as part of 1 of 2 national research programs, Finding of Rare Genetic Disease Genes or Enhanced Care for Rare Genetic Diseases in

SUBMITTER: Gauquelin L 

PROVIDER: S-EPMC7604675 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature