Journal article
DCTN1 mutations in Perry syndrome
Nature genetics, Vol.41(2), pp.163-165
02/2009
DOI: 10.1038/ng.293
PMCID: PMC2813485
PMID: 19136952
Abstract
Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (
DCTN1
) CAP-Gly domain substitutions in 8 families that diminish microtubule binding and lead to intracytoplasmic inclusions.
DCTN1
mutations were previously associated with motor neuron disease but can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.
Details
- Title: Subtitle
- DCTN1 mutations in Perry syndrome
- Creators
- Matthew J Farrer - Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USAMary M Hulihan - Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USAJennifer M Kachergus - Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USAJustus Dächsel - Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USAA. Jon Stoessl - Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, CanadaLinda L Grantier - Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, CanadaSusan Calne - Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, CanadaDonald B Calne - Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, CanadaBernard Lechevalier - Neurology Service and Laboratory of Pathology, CHU-Caen, Caen, FranceFrancoise Chapon - Neurology Service and Laboratory of Pathology, CHU-Caen, Caen, FranceYoshio Tsuboi - Department of Neurology, Fukuoka University, Fukuoka, JapanTatsuo Yamada - Department of Neurology, Fukuoka University, Fukuoka, JapanLudwig Gutmann - Department of Neurology, West Virginia University, Morgantown, WV, USABülent Elibol - Department of Neurology, Hacettepe University School of Medicine, Ankara, TurkeyKailash P Bhatia - Department of Neurology, Queen Square, University College London, UKChristian W Wider - Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USACarles Vilariño-Güell - Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USAOwen A Ross - Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USALaura A Brown - Department of Neurology, Mayo Clinic Florida, Jacksonville, USAMonica Castanedes-Casey - Department of Neuropathology, Mayo Clinic Florida, Jacksonville, USADennis W Dickson - Department of Neuropathology, Mayo Clinic Florida, Jacksonville, USAZbigniew K Wszolek - Department of Neurology, Mayo Clinic Florida, Jacksonville, USA
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.41(2), pp.163-165
- DOI
- 10.1038/ng.293
- PMID
- 19136952
- PMCID
- PMC2813485
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 02/2009
- Academic Unit
- Neurology
- Record Identifier
- 9984020605702771
Metrics
24 Record Views