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Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.

Authors
  • Gafner, Michal1
  • Michelson, Marina2
  • Yosovich, Keren3
  • Blumkin, Lubov4
  • Lerman-Sagie, Tally4
  • Lev, Dorit5
  • 1 Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. , (Israel)
  • 2 Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. , (Israel)
  • 3 Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel. , (Israel)
  • 4 Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. , (Israel)
  • 5 Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. Electronic address: [email protected] , (Israel)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 02, 2019
Pages
103801–103801
Identifiers
DOI: 10.1016/j.ejmg.2019.103801
PMID: 31689548
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Pontocerebellar hypoplasia (PCH) encompasses a group of neurodegenerative disorders. There are ten known subtypes with common characteristics of pontine and cerebellar hypoplasia or atrophy, neocortical atrophy, and microcephaly. PCH is associated with anterior horn cell degeneration in PCH1a and PCH1b due to mutations in the VRK1 and EXOSC3 genes. Late onset PCH1 has been described in single case reports. The molecular etiology remains mostly unknown. We describe two siblings from a consanguineous Moslem Arabic family with a unique combination of progressive cerebellar atrophy and a SMA-like anterior horn cell degeneration due to a homozygous mutation in the PLA2G6 gene (NM_003560.2). The PLA2G6 gene encodes phospholipase A2 beta, which is involved in the remodeling of membrane phospholipids, signal transduction and calcium signaling, cell proliferation and apoptosis. Mutations in PLA2G6 are known to cause Neurodegeneration with brain iron accumulation 2 (NBIA2): Our patients have some similarities with NBIA2; both are characterized by rapidly progressive psychomotor regression and cerebellar atrophy. However, NBIA2 is not known to exhibit anterior horn cell degeneration. Our patients' phenotype is more consistent with late onset PCH1; thus, indicating that the spectrum of clinical and radiological presentations of PLA2G6 mutations should be extended and that this gene should be included in the molecular evaluation of patients with late onset PCH1. Copyright © 2019. Published by Elsevier Masson SAS.

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