Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia
| Autor: | Mireille Claustres, Christine Tranchant, Martial Mallaret, Michel Koenig, Nathalie Drouot, Mathilde Renaud, Claire Guissart, Jean Muller, Sacha Ferdinandusse, David Cheillan, Mathieu Anheim |
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| Přispěvatelé: | Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratory Genetic Metabolic Diseases |
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Ataxia Neurology Cerebellar Ataxia [SDV]Life Sciences [q-bio] DNA Mutational Analysis Mutation Missense Receptors Cytoplasmic and Nuclear Biology Peroxins Peroxisomal Disorders PEX10 Disability Evaluation 03 medical and health sciences 0302 clinical medicine Internal medicine otorhinolaryngologic diseases medicine Humans Missense mutation Exome sequencing Genetics Brain Middle Aged Magnetic Resonance Imaging 3. Good health 030104 developmental biology Endocrinology Disease Progression Female PEX1 Cerebellar atrophy Neurology (clinical) medicine.symptom 030217 neurology & neurosurgery PEX6 |
| Zdroj: | Journal of Neurology Journal of Neurology, Springer Verlag, 2016, 263 (8), pp.1552-8. ⟨10.1007/s00415-016-8167-3⟩ Journal of neurology, 263(8), 1552-1558. D. Steinkopff-Verlag |
| ISSN: | 1432-1459 0340-5354 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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