Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease

OBJECTIVES: To describe clinical and genetic findings in 2 siblings with slowly progressive ataxia. METHODS: We studied 2 adult siblings through detailed physical and instrumental examinations. Whole-exome sequencing was used to identify an underlying genetic cause. RESULTS: Both siblings presented...

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Detalles Bibliográficos
Autores principales: Burnyte, Birute, Vilimiene, Ramune, Grigalioniene, Kristina, Adomaitiene, Irina, Utkus, Algirdas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088641/
https://www.ncbi.nlm.nih.gov/pubmed/37057294
http://dx.doi.org/10.1212/NXG.0000000000200068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088641/
https://www.ncbi.nlm.nih.gov/pubmed/37057294
http://dx.doi.org/10.1212/NXG.0000000000200068

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