Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss

Autosomal dominant adult-onset neuronal ceroid lipofuscinosis (AD-ANCL) is a multisystem disease caused by mutations in the DNAJC5 gene. DNAJC5 encodes Cysteine String Protein-alpha (CSPα), a putative synaptic protein. AD-ANCL has been traditionally considered a lysosomal storage disease based on th...

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Detalles Bibliográficos
Autores principales: Benitez, Bruno A., Cairns, Nigel J., Schmidt, Robert E., Morris, John C., Norton, Joanne B., Cruchaga, Carlos, Sands, Mark S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660676/
https://www.ncbi.nlm.nih.gov/pubmed/26610600
http://dx.doi.org/10.1186/s40478-015-0256-5

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