[Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients].

ABSTRACT:

Objectives

To describe a series of patients with episodic ataxia type 2 (EA2), attending to epidemiological, clinical, radiological, and therapeutic variables.

Material and methods

Retrospective revision of patients with molecular diagnosis of EA2 (CACNA1A mutations), between 1988 and 2022. Information achieved from the database of our Movement Disorders clinic. A descriptive statistical analysis was made.

Results

Ten patients from five families were analyzed (six women). Median age at diagnosis was 37.5 years-old, with a median diagnostic delay of 20 years. 70% reported familial history of CACNA1A associated symptoms, although 50% presented migraine, epilepsy, dystonia, or neuropsychiatric alterations. Two heterozygous consanguineous patients had homozygotic descenda

SUBMITTER: Alcala-Torres J 

PROVIDER: S-EPMC10478108 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature