Neurology · 2009
Characterization of DCTN1 genetic variability in neurodegeneration.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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
Аннотация
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 all DCTN1 exons and exon-intron boundaries in 286 samples diagnosed with Parkinson disease (PD), frontotemporal lobar degeneration (FTLD), or ALS.
RESULTS: This analysis revealed 36 novel variants (9 missense, 5 silent, and 22 noncoding). Segregation analysis in families and association studies in PD, FTLD, and ALS case-control series did not identify any variants segregating with disease or associated with increased disease risk.
CONCLUSIONS: This study suggests that pathogenic mutations in DCTN1 are rare and do not play a common role in the development of Parkinson disease, frontotemporal lobar degeneration, or amyotrophic lateral sclerosis.
METHODS: In this study we sequenced all DCTN1 exons and exon-intron boundaries in 286 samples diagnosed with Parkinson disease (PD), frontotemporal lobar degeneration (FTLD), or ALS.
RESULTS: This analysis revealed 36 novel variants (9 missense, 5 silent, and 22 noncoding). Segregation analysis in families and association studies in PD, FTLD, and ALS case-control series did not identify any variants segregating with disease or associated with increased disease risk.
CONCLUSIONS: This study suggests that pathogenic mutations in DCTN1 are rare and do not play a common role in the development of Parkinson disease, frontotemporal lobar degeneration, or amyotrophic lateral sclerosis.
Предметные рубрики MeSH
AgedAged, 80 and overAmyotrophic Lateral SclerosisCase-Control StudiesDNA Mutational AnalysisDNA-Binding ProteinsDementiaDynactin ComplexExonsFemaleGene FrequencyGenetic MarkersGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenotypeHumansMaleMicrotubule-Associated ProteinsMiddle AgedMutationParkinson Disease