Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia

Frontotemporal dementia includes a large spectrum of neurodegenerative disorders. SQSTM1, coding for p62 protein, plays a vital role in the pathogenesis of FTD. Here, we report a case of a female patient with SQSTM1 mutation S224X, who was 59 years old when she initially exhibited memory decline, mi...

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Detalles Bibliográficos
Autores principales: Sun, Lin, Rong, Zhouyi, Li, Wei, Zheng, Honghua, Xiao, Shifu, Li, Xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808128/
https://www.ncbi.nlm.nih.gov/pubmed/29467647
http://dx.doi.org/10.3389/fnagi.2018.00026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808128/
https://www.ncbi.nlm.nih.gov/pubmed/29467647
http://dx.doi.org/10.3389/fnagi.2018.00026

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