MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.

ABSTRACT:

Background and purpose

Lafora disease (LD) is a very rare autosomal recessive disorder manifesting primarily as fatal, congenital, and neurodegenerative epilepsies. We aimed to describe the MRI characteristics due to gene mutations in a Chinese pedigree with LD.

Methods

Whole-exome sequencing, muscle biopsy, pedigree analysis, and MRI analysis were conducted. Five family members (two of whom were affected by LD) were whole-genome sequenced. Longitudinal changes in brain MRI volumes were analyzed by Freesurfer.

Results

We identified a new intron heterozygous mutation in the EMP2A gene c.71 (exon 1) G>A in a Chinese LD pedigree that was characterized by refractory seizures, progressive vision impairment, and declines in motor and cognitive functions. The patient suffere

SUBMITTER: Sun Y 

PROVIDER: S-EPMC10568394 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature