학술논문
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Document Type
Review
Author
Karimzadeh P; Pediatric Neurology Reaseach Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Najmabadi H; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Lochmuller H; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; Department of Medicine, Division of Neurology, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Babaee M; Physical Medicine & Rehabilitation Research Center, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1989934148, Iran. Electronic address: rambabaee@yahoo.com.; Dehdahsi S; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Miryounesi M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Amirsalari S; School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Rayegani SM; Physical Medicine & Rehabilitation Research Center, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1989934148, Iran.; Tonekaboni SH; Pediatric Neurology Reaseach Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Source
Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
Subject
Language
English
Abstract
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare inherited autosomal recessive disease due to bi-allelic mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, accompanied by epilepsy, intractable seizures, and sometimes sensorineural hearing loss. To the best of our knowledge, 47 cases have been reported. The present study reports five patients from four different families affected by SMA-PME characterized by progressive myoclonic epilepsy, proximal weakness, and lower motor neuron disease, as proven by electrodiagnostic studies. Genetic analysis identified two different mutations in the ASAH1 (NM_177924.4) gene, a previously reported pathogenic variant, c.125C>T (p.Thr42Met), and a novel likely pathogenic variant c.109C>A (p.Pro37Thr). In addition to reporting a novel pathogenic variant in the ASAH1 gene causing SMA-PME disease, this study compares the signs, phenotypic, and genetic findings of the case series with previous reports and discusses some symptomatic treatments.
Competing Interests: Declaration of Competing Interest None.
(Copyright © 2022. Published by Elsevier B.V.)
Competing Interests: Declaration of Competing Interest None.
(Copyright © 2022. Published by Elsevier B.V.)