Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare autosomal-recessive neurodegenerative disorder. Patients with INAD usually show neurological symptoms with infant onset and die in childhood. Recently, it was reported that mutations in the PLA2G6 gene cause INAD, but neuropathological ana...

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Detalles Bibliográficos
Autores principales: Riku, Yuichi, Ikeuchi, Takeshi, Yoshino, Hiroyo, Mimuro, Maya, Mano, Kazuo, Goto, Yoji, Hattori, Nobutaka, Sobue, Gen, Yoshida, Mari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893443/
https://www.ncbi.nlm.nih.gov/pubmed/24252552
http://dx.doi.org/10.1186/2051-5960-1-12

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