Article
Characterization of DCTN1 genetic variability in neurodegeneration.
Neurology - 9 Jun 2009
Vilariño-Güell C, Wider C, Soto-Ortolaza A I, Cobb S A, Kachergus J M, Keeling B H, Dachsel J C, Hulihan M M, Dickson D W, Wszolek Z K, Uitti R J, Graff-Radford N R, Boeve B F, Josephs K A, Miller B, Boylan K B, Gwinn K, Adler C H, Aasly J O, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin M-C, Ross O A, Rademakers R, Farrer M J
Abstract excerpt
OBJECTIVE: Recently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. Previously, mutations in DCTN1 were identified in a family with lower motor neuron disease, in amyotrophic lateral sclerosis (ALS), and in a family with ALS/frontotemporal dementia (FTD), suggesting a central role for DCTN1 in neurodegeneration. METHODS: In this study we sequenced...
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