Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Abstract Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination. Case presentation A family affected by spinocerebellar ataxia was id...

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Bibliographic Details
Main Authors: Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Journal of Medical Case Reports
Subjects:
Case report
PRKCG
SCA14
Spinocerebellar ataxia
Whole exome sequencing
Online Access:https://doi.org/10.1186/s13256-023-03897-y

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