A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease
| Autor: | Frank Baas, H. Jurgen Schelhaas, Marialuisa Quadri, Bart P.C. van de Warrenburg, Vincenzo Bonifati, Rianne A. J. Esselink, Marian A. J. Weterman, Bastiaan R. Bloem, Marjolein B. Aerts |
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| Přispěvatelé: | Amsterdam Neuroscience, Cancer Center Amsterdam, Human Genetics, Clinical Genetics |
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Nervous system Genetics Mutation Parkinson's disease General Neuroscience Parkinsonism Central nervous system Substantia nigra Biology Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] medicine.disease_cause medicine.disease Brief Communication Phenotype Ubiquitin ligase 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure medicine biology.protein Neurology (clinical) 030217 neurology & neurosurgery |
| Zdroj: | Annals of Clinical and Translational Neurology Annals of Clinical and Translational Neurology, 3, 146-9 Annals of clinical and translational neurology, 3(2), 146-149. John Wiley and Sons Ltd Annals of Clinical and Translational Neurology, 3, 2, pp. 146-9 Annals of Clinical and Translational Neurology, 3(2), 146-149. John Wiley & Sons Inc. |
| ISSN: | 2328-9503 |
| Popis: | Contains fulltext : 168294.pdf (Publisher’s version ) (Open Access) LRSAM1 mutations have been found in recessive and dominant forms of Charcot-Marie-Tooth disease. Within one generation of the original Dutch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have developed Parkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late-onset parkinsonism is part of the LRSAM1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous system phenotype. How the mutated Lrsam1 protein, which normally has E3 ubiquitin ligase activity and is expressed in the nervous system, impacts on substantia nigra neurons is unclear. |
| Databáze: | OpenAIRE |
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