Conference
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.
Authors
Gauquelin L; Hartley T; Tarnopolsky M; Dyment DA; Brais B; Geraghty MT; Tétreault M; Ahmed S; Rojas S; Choquet K
Volume
7
Pagination
pp. 940-949
Publisher
Wiley
Publication Date
11 2020
DOI
10.1002/mdc3.13086
Conference proceedings
Movement Disorders Clinical Practice
Issue
8
ISSN
2330-1619