Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Neurology Année : 2016

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

M. Renaud
  • Fonction : Auteur
C. Guissart
  • Fonction : Auteur
M. Mallaret
  • Fonction : Auteur
S. Ferdinandusse
  • Fonction : Auteur
N. Drouot
  • Fonction : Auteur
J. Muller
M. Claustres
  • Fonction : Auteur
C. Tranchant
  • Fonction : Auteur
M. Anheim
  • Fonction : Auteur
M. Koenig
  • Fonction : Auteur

Résumé

Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases, in which peroxisome assembly and proliferation are impaired leading to severe multisystem disease and early death. PBDs include Zellweger spectrum disorders (ZSDs) with a relatively mild clinical phenotype caused by PEX1, (MIM# 602136), PEX2 (MIM# 170993), PEX6 (MIM# 601498), PEX10 (MIM# 602859), PEX12 (MIM# 601758), and PEX16 (MIM# 603360) mutations. Three adult patients are reported belonging to a non-consanguineous French family affected with slowly progressive cerebellar ataxia, axonal neuropathy, and pyramidal signs. Mental retardation and diabetes mellitus were optional. The age at onset was in childhood or in adolescence (3-15 years). Brain MRI showed marked cerebellar atrophy. Biochemical blood analyses suggested a mild peroxisomal defect. With whole exome sequencing, two mutations in PEX10 were found in the three patients: c.827G\textgreaterT (novel) causing the missense change p.Cys276Phe and c.932G\textgreaterA causing the missense change p.Arg311Gln. The phenotypic spectrum related to PEX10 mutations includes slowly progressive, syndromic recessive ataxia.
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Dates et versions

hal-01850283 , version 1 (27-07-2018)

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Citer

M. Renaud, C. Guissart, M. Mallaret, S. Ferdinandusse, David Cheillan, et al.. Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. Journal of Neurology, 2016, 263 (8), pp.1552-8. ⟨10.1007/s00415-016-8167-3⟩. ⟨hal-01850283⟩
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