PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
- Author
- SYNOFZIK, Matthis1 2 ; GONZALEZ, Michael A3 ; DURR, Alexandra5 6 ; SCHÖLS, Ludger1 2 ; LIMA-MARTINEZ, Marcos M13 ; FAROOQ, Amjad14 ; SCHÜLE, Rebecca1 2 3 ; STEVANIN, Giovanni5 6 8 ; MARQUES, Wilson4 ; ZÜCHNER, Stephan3 ; LOURENCO, Charles Marques4 ; COUTELIER, Marie5 6 7 8 ; HAACK, Tobias B10 9 ; REBELO, Adriana3 ; HANNEQUIN, Didier11 ; STROM, Tim M10 9 ; PROKISCH, Holger10 9 ; KERNSTOCK, Christoph12
[1] Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany
[2] German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany
[3] Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States
[4] Departamento de Neurologia, Faculdade de Medicina de Ribeirão Preto, Universidade de Sao Paulo, SP 14049-900, Ribeirao Preto, Brazil
[5] Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UPMC Univ Paris VI, UMR_S975, CNRS UMR 7225, France
[6] INSERM U975, Hôpital de la Pitié-Salpêtrière, 75013 Paris, France
[7] Laboratoire de Génétique Humaine, Institut de Duve, 1200 Brussels, Belgium
[8] Laboratoire de Neurogénétique, Ecole Pratique des Hautes Etudes, Institut du Cerveau et de la Moelle épinière, 75013 Paris, France
[9] Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany
[10] Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany
[11] Department of Neurology, CNRMAJ, Inserm U1079, Rouen University Hospital, 76031, France
[12] Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Germany
[13] Division of Medical Physiology, Department of Physiological Sciences, University of Oriente, Ciudad Bolívar, Venezuela
[14] Farooq Laboratory of Macromolecular Biophysics, Department of Biochemistry and Molecular Biology, Leonard Miller School of Medicine, University of Miami, Miami, FL 33136, United States - Source
Brain. 2014, Vol 137, pp 69-77, 9 p ; 1 ; ref : 3/4 p
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- ataxia early onset ataxia genetics hereditary spastic paraplegia hypogonadism recessive ataxia retinal degeneration spastic ataxia spasticity
- Keyword (fr)
- Ataxie Dégénérescence maculaire Hypertonie spastique Hypogonadisme Mutation Paraplégie spasmodique héréditaire de Strümpell-Lorrain Pathologie du système nerveux Maladie dégénérative Maladie héréditaire Pathologie de l'appareil génital Pathologie de l'encéphale Pathologie de l'oeil Pathologie de la moelle épinière Pathologie du muscle strié Pathologie du système nerveux central Rétinopathie Trouble du tonus Trouble neurologique
- Keyword (en)
- Ataxia Macular degeneration Spasticity Hypogonadism Mutation Hereditary spastic paraplegia Nervous system diseases Degenerative disease Genetic disease Genital diseases Cerebral disorder Eye disease Spinal cord disease Striated muscle disease Central nervous system disease Retinopathy Muscle tonus alteration Neurological disorder
- Keyword (es)
- Ataxia Degeneración macula Hipertonia espástica Hipogonadismo Mutación Paraplejía espasmódica hereditaria Strümpell-Lorrain Sistema nervioso patología Enfermedad degenerativa Enfermedad hereditaria Aparato genital patología Encéfalo patología Ojo patología Médula espinal patología Músculo estriado patología Sistema nervosio central patología Retinopatía Trastorno tono muscular Trastorno neurológico
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09I Retinopathies
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A01 Nervous system as a whole
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A07 Cerebrospinal fluid. Meninges. Spinal cord
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 28157582
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1093/brain/awt326 
https://dx.doi.org/10.1093/brain/awt326
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