Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

ABSTRACT:

Background

Kufor-Rakeb syndrome (KRS) is a rare autosomal recessive neurologic disease with diverse phenotypic features. Herein we report an Iranian KRS family with seizure and action myoclonus in addition to other typical manifestations of this syndrome.

Method

All family members underwent careful neurologic examination. Exome sequencing was performed and ATP13A2 variation genotyped in all family members.

Results

Cognitive deficits, hypokinesia, rigidity, spasticity, brisk deep tendon reflexes, upward gaze palsy, tremor, and facial-faucial-finger mini-myoclonus were the common manifestations of all affected siblings. Two cases had seizure and the most severely affected sibling demonstrated severe action myoclonus. Exome sequencing identified a homozygous nonse

SUBMITTER: Rohani M 

PROVIDER: S-EPMC6407049 | biostudies-literature | 2018 Mar-Apr

REPOSITORIES: biostudies-literature