Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A

We encountered a 37-year-old Japanese man with KIF1A-associated neurological disorder (KAND) who exhibited motor developmental delay, intellectual disability, and slowly progressive cerebellar ataxia, hypotonia, and optic neuropathy. Pyramidal tract signs were evident late in this case. At 30 years...

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Detalles Bibliográficos
Autores principales: Nakamura, Katsuya, Yoshinaga, Tsuneaki, Kodaira, Minori, Kise, Emiko, Kosho, Tomoki, Sekijima, Yoshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641196/
https://www.ncbi.nlm.nih.gov/pubmed/36889712
http://dx.doi.org/10.2169/internalmedicine.1184-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641196/
https://www.ncbi.nlm.nih.gov/pubmed/36889712
http://dx.doi.org/10.2169/internalmedicine.1184-22

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