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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
Human Mutation, Volume 32, No. 10, Year 2011
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Description
Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes. We identified 12 different heterozygous mutations, including two exon deletions, associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD-HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but nine had a complex phenotype associating axonal peripheral neuropathy (= 5/11 patients) including a Silver-like syndrome in one patient, and less frequently cerebellar ataxia, tremor, dementia. Interestingly, we evidenced abnormal mitochondrial network organization in fibroblasts of one patient in addition to defective mitochondrial energy production in both fibroblasts and muscle, but whether these anomalies are directly or indirectly related to the mutations remains uncertain. © 2011 Wiley-Liss, Inc.
Authors & Co-Authors
Goizet, Cyril
France, Bordeaux
Université de Bordeaux
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Talence
Centre Hospitalier Universitaire de Bordeaux
Depienne, Christel
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Benard, Giovanni
France, Bordeaux
Université de Bordeaux
Boukhris, Amir
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Tunisia, Sfax
Chu Habib Bourguiba
Mundwiller, Emeline
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
Sole, G.
France, Bordeaux
Université de Bordeaux
France, Talence
Centre Hospitalier Universitaire de Bordeaux
Coupry, Isabelle
France, Bordeaux
Université de Bordeaux
Pilliod, Julie
France, Bordeaux
Université de Bordeaux
Martin-Négrier, Marie Laure
France, Talence
Centre Hospitalier Universitaire de Bordeaux
Fedirko, Estelle
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Forlani, Sylvie
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
Cazeneuve, Cećile
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Hannequin, Didier
France, Rouen
Chu Rouen Normandie
Charles, Perrine
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Feki, Imed
France, Paris
Inserm
France, Paris
Sorbonne Université
Tunisia, Sfax
Chu Habib Bourguiba
Pinel, Jean François
France, Rennes
Hôpital Pontchaillou
Ouvrard-Hernandez, Anne Marie
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Lyonnet, Stanislas L.
France, Paris
Université Paris Cité
Ollagnon-Roman, Elisabeth
France, Lyon
Hopital de la Croix-rousse
Yaouanq, Jacqueline
France, Rennes
Hôpital Pontchaillou
Toutain, Annick M.
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Dussert, Christelle
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
Fontaine, Bertrand
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
LeGuern, Éric
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Lacombe, Didier
France, Bordeaux
Université de Bordeaux
France, Talence
Centre Hospitalier Universitaire de Bordeaux
Dürr, Alexandra
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Rossignol, Rodrigue
France, Bordeaux
Université de Bordeaux
Brice, Alexis
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Stévanin, Giovanni
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
École Pratique Des Hautes Études
Statistics
Citations: 85
Authors: 29
Affiliations: 14
Identifiers
Doi:
10.1002/humu.21542
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Mental Health