
Expanding spectrum of RARS 2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features
Author(s) -
Mathew Thomas,
Avati Amrutha,
D'Souza Delon,
Therambil Manjusha
Publication year - 2018
Publication title -
epilepsia open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.247
H-Index - 16
ISSN - 2470-9239
DOI - 10.1002/epi4.12108
Subject(s) - myoclonic epilepsy , myoclonic jerk , epilepsy , dystonia , medicine , progressive myoclonus epilepsy , apraxia , myoclonus , psychology , neuroscience , pediatrics , aphasia
Summary Pontocerebellar hypoplasia type 6 ( PCH 6) is an autosomal recessive mitochondrial disease, typically characterized by pontine atrophy, vermian hypoplasia, infantile encephalopathy, generalized hypotonia, and intractable seizures. The purpose of this study is to describe the seizures and other neurological manifestations of RARS 2 gene mutations and to compare the clinical features with other causes of progressive myoclonic epilepsy. Detailed history, physical examination, and clinical and genetic work‐up were performed in 2 siblings who presented with progressive myoclonic epilepsy. One sibling, a 20‐year‐old woman, and the other a 24‐year‐old man, had a homozygous missense variant (c.848T>A; p.Leu283Gln) in exon 10 of the RARS 2 gene. The female patient had action and audiogenic myoclonic jerks, postural tremors, spastic dysarthria, and bradykinesia, and her male sibling had similar features with oculomotor apraxia. The RARS 2 gene mutation can present with myoclonic epilepsy, mental retardation, and pyramidal and extrapyramidal features, and is an important differential for causes of progressive myoclonic epilepsy.