Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.

ABSTRACT:

Background

Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in KCNA1 and CACNA1A. EA3-8 are reported in rare families. Advances in genetic testing have broadened the KCNA1 and CACNA1A phenotypes, and detected EA as an unusual presentation of several other genetic disorders. Additionally, there are various secondary causes of EA and mimicking disorders. Together, these can pose diagnostic challenges for neurologists.

Methods

A systematic literature review was performed in October 2022 for 'episodic ataxia' and 'paroxysmal ataxia', restricted to publications in the last 10

SUBMITTER: Hassan A 

PROVIDER: S-EPMC10064912 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature