Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

OBJECTIVE: To establish molecular diagnosis for a family with a complicated form of autosomal recessive hereditary spastic paraplegia with intellectual disability, cognitive decline, psychosis, peripheral neuropathy, upward gaze palsy, and thin corpus callosum (TCC). METHODS: Physical examinations,...

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Detalles Bibliográficos
Autores principales: Odake, Yasuko, Koh, Kishin, Takiyama, Yoshihisa, Ishiura, Hiroyuki, Tsuji, Shoji, Yamada, Masahito, Yoshita, Mitsuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577544/
https://www.ncbi.nlm.nih.gov/pubmed/33134512
http://dx.doi.org/10.1212/NXG.0000000000000514

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577544/
https://www.ncbi.nlm.nih.gov/pubmed/33134512
http://dx.doi.org/10.1212/NXG.0000000000000514

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