Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal ¹H MRS brain metabolic profiles associated with cognitive function.

ABSTRACT:

Purpose

Progressive myoclonic epilepsy, type 1A (EPM1, Unverricht-Lundborg disease), is a rare neurodegenerative autosomal recessive disorder characterized by stimulus-sensitive and action myoclonus and tonic-clonic epileptic seizures. Patients develop neurological symptoms, including ataxia, intention tremor, and dysarthria, over time, with relatively limited and nonspecific MRI atrophy findings. The effects of the disease on brain metabolism are largely unknown.

Method

Eighteen EPM1 patients (9 M, 9F) underwent clinical evaluation and neuropsychological testing, which included the assessment of intellectual ability, verbal memory, and psychomotor and executive functions. Magnetic resonance spectroscopy (MRS) and imaging (MRI) were performed on a 1.5 T MRI system. 2D MRS ch

SUBMITTER: Hypponen J 

PROVIDER: S-EPMC10412857 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature