No association of TDP-43 with sporadic frontotemporal dementia.
Neurobiol Aging
; 30(1): 157-9, 2009 Jan.
Article
em En
| MEDLINE
| ID: mdl-17614162
ABSTRACT
A hyperphosphorylated, ubiquitinated form of TDP-43, known as pathologic TDP-43, was shown to be a central component of ubiquitin-positive, tau-negative and alpha-synuclein-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amytrophic lateral sclerosis (ALS). To investigate the role of the TDP-43 gene in sporadic forms of frontotemporal dementia (FTD), we genotyped 10 single nucleotide polymorphisms covering the entire TDP-43 genomic region, including the MASP2 gene in 173 patients with sporadic FTD (including 7 patients that were diagnosed with FTD and ALS) and 184 matched controls from Germany. Although we could observe a weak trend towards a potential disease association in a few FTD/ALS patients, no significant association with sporadic FTD could be demonstrated. There is no evidence, that common variants in TDP-43 confer a strong risk to the development of sporadic FTD.
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Base de dados:
MEDLINE
Assunto principal:
Medição de Risco
/
Polimorfismo de Nucleotídeo Único
/
Demência
/
Proteínas de Ligação a DNA
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
/
Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article