title: A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration.
abstract: Parkinson's disease (PD) is a common neurodegenerative movement disorder characterized by the destruction of dopaminergic neurons of the substantia nigra. We have identified a new mutation (Gly336Ser) in the medium neurofilament subunit in a patient of French-Canadian origin with early onset severe PD. This finding suggests, for the first time, that aberrations in neuronal molecules involved in the cytoskeleton could lead to the development of the pathology seen in PD.
authors.affiliation: Novartis Pharmaceuticals Corporation, Pharmacogenetics, 9 W Watkins Mill Road, Gaithersburg, MD 20878, USA.
authors.forename: Christian
authors.initials: C
authors.lastname: Lavedan
authors.forename: Stephanie
authors.initials: S
authors.lastname: Buchholtz
authors.forename: Robert L
authors.initials: RL
authors.lastname: Nussbaum
authors.forename: Roger L
authors.initials: RL
authors.lastname: Albin
authors.forename: Mihael H
authors.initials: MH
authors.lastname: Polymeropoulos
mesh_terms: D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D003599:Cytoskeleton / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016900:Neurofilament Proteins / Q000235:genetics* / Q000378:metabolism; D009474:Neurons / Q000378:metabolism* / Q000473:pathology; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D012694:Serine / Q000235:genetics
chemical_list: D016900:Neurofilament Proteins; C061195:neurofilament protein M; D012694:Serine; D005998:Glycine