A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration.
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.
Lavedan
Christian
C
Novartis Pharmaceuticals Corporation, Pharmacogenetics, 9 W Watkins Mill Road, Gaithersburg, MD 20878, USA.
Buchholtz
Stephanie
S
Nussbaum
Robert L
RL
Albin
Roger L
RL
Polymeropoulos
Mihael H
MH
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
D016900:Neurofilament Proteins; C061195:neurofilament protein M; D012694:Serine; D005998:Glycine