Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia.

ABSTRACT:

Background and purpose

Episodic ataxia type 2 (EA2) is characterized by recurrent vertigo and ataxia due to mutations in CACNA1A that encodes the α_1A-subunit of the P/Q-type voltage-gated calcium channel. This study aimed to determine intellectual function in EA2.

Methods

During 2019-2023, 13 patients (6 males, age range=10-52 years, median age=29 years) with a genetically confirmed diagnosis of EA2 had their intellectual function evaluated using the Korean versions of the Wechsler Intelligence Scales (version IV) for adults or children in 3 referral-based university hospitals in South Korea.

Results

The full-scale intelligence quotients (FSIQs) among the 13 patients were below the average (90-109) in 11, low average (80-89) in 5 (38.5%), borderline

SUBMITTER: Kim S 

PROVIDER: S-EPMC11543395 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature