New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.
Int J Mol Sci
; 25(10)2024 May 08.
Article
em En
| MEDLINE
| ID: mdl-38791166
ABSTRACT
Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The VPS13D gene, part of the VPS13 family, has emerged as a crucial player in neurological pathology, implicated in diverse phenotypes ranging from movement disorders to Leigh syndrome. We present a clinical case of VPS13D-associated disease with two variants in the VPS13D gene in an adult female. This case contributes to our evolving understanding of VPS13D-related diseases and underscores the importance of genetic screening in diagnosing and managing such conditions.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxias Espinocerebelares
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article