DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.
Neurobiol Aging
; 93: 143.e5-143.e7, 2020 09.
Article
em En
| MEDLINE
| ID: mdl-32402491
ABSTRACT
DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
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Paralisia Supranuclear Progressiva
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Análise Mutacional de DNA
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Testes Genéticos
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Atrofia de Múltiplos Sistemas
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Doença por Corpos de Lewy
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Estudos de Associação Genética
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Complexo Dinactina
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Resultados Negativos
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article