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01-08-2016 | Original Communication

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

Authors: Mathilde Renaud, Claire Guissart, Martial Mallaret, Sacha Ferdinandusse, David Cheillan, Nathalie Drouot, Jean Muller, Mireille Claustres, Christine Tranchant, Mathieu Anheim, Michel Koenig

Published in: Journal of Neurology | Issue 8/2016

Abstract

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>T (novel) causing the missense change p.Cys276Phe and c.932G>A causing the missense change p.Arg311Gln. The phenotypic spectrum related to PEX10 mutations includes slowly progressive, syndromic recessive ataxia.

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Title: Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia
Authors: Mathilde Renaud
Claire Guissart
Martial Mallaret
Sacha Ferdinandusse
David Cheillan
Nathalie Drouot
Jean Muller
Mireille Claustres
Christine Tranchant
Mathieu Anheim
Michel Koenig
Publication date: 01-08-2016
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 8/2016
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-016-8167-3

Keynote webinar | Spotlight on sleep in brain health

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

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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