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Your search keyword '"Bonneau P"' showing total 19 results
Start Over Author "Bonneau P" Journal revue neurologique
19 results on '"Bonneau P"'

9. Diagnostic d’un syndrome de Joubert de type 9 chez 2 patients de 58 et 56 ans grâce à l’exome

Author

Weber, Sacha, Guillet-Pichon, Virginie, Ziegler, Alban, Bonneau, Dominique, and Verny, Christophe

Abstract

Depuis 2013, l’exome est utilisé pour le diagnostic des ataxies cérébelleuses héréditaires quand les examens complémentaires n’ont pas permis d’évoquer d’hypothèses diagnostiques précises et que les analyses moléculaires classiques sont négatives.

Published
2022
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17. Maladie de parkinson juvénile chez un enfant de 12ans

Author

Dahimène, Fayçal, Gueden, Sophie, Jeanguillaume, Christian, Guichet, Agnès, Bonneau, Dominique, Verny, Christophe, and N’Guyen, Sylvie

Abstract

Les formes génétiques de maladie de Parkinson (MP) concernent de 10 à 15 % des cas de l’ensemble des MP. La maladie de Parkinson juvénile est définie comme apparaissant avant l’âge de 40ans.

Published
2015
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18. [Hereditary optic atrophies].

Author

Scherer C, Procaccio V, Ferre M, Guillet V, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, and Verny C

Subjects
DNA, Mitochondrial genetics, GTP Phosphohydrolases genetics, Humans, Mutation, Optic Atrophies, Hereditary diagnosis, Optic Atrophy, Autosomal Dominant genetics, Optic Atrophy, Autosomal Dominant pathology, Optic Atrophy, Hereditary, Leber genetics, Optic Atrophy, Hereditary, Leber pathology, Retinal Ganglion Cells pathology, Optic Atrophies, Hereditary genetics, Optic Atrophies, Hereditary pathology
Abstract

Introduction: Hereditary optic neuropathies, resulting from retinal ganglion cell degeneration, are a heterogeneous group of diseases ranging from asymptomatic forms to legal blindness., State of Knowledge: Two most frequent phenotypes are Kjer's disease, an autosomal dominant optic atrophy caused by OPA1 gene mutations, and Leber's disease due to maternally inherited mitochondrial DNA mutations., Prospects and Conclusion: Both optic neuropathies usually isolated are sometimes associated with extraocular symptoms, especially neurological symptoms, thus justifying a systematic neurological evaluation and brain imaging., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Published
2010
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19. [An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].

Author

Verny C, Amati-Bonneau P, Dubas F, Malthiéry Y, Reynier P, and Bonneau D

Subjects
Adult, Aged, Aged, 80 and over, Basal Ganglia Diseases complications, Cataract complications, Child, Female, Follow-Up Studies, Humans, Middle Aged, Optic Atrophies, Hereditary complications, Pedigree, Basal Ganglia Diseases genetics, Cataract genetics, Mutation, Optic Atrophies, Hereditary genetics, Proteins genetics
Abstract

Introduction: In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sjogren syndrome and Friedreich's ataxia., Method: This family was followed over a period of 40 years and genes known to be responsible for optic atrophy were sequenced., Results: The G277A mutation of OPA3 gene was responsible for this familial disease., Discussion: A new clinical entity is identified: autosomal dominant optic atrophy and cataract, due to a heterozygous mutation of the OPA3 gene, a nuclear gene encoding a mitochondrial protein.

Published
2005
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