Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
Neuropediatrics
; 50(5): 308-312, 2019 10.
Article
em En
| MEDLINE
| ID: mdl-31226716
ABSTRACT
Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, nonsyndromic hearing loss, and myoclonus. We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C >T/p.Pro102Ser and c.410T > C/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia
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Proteínas Ativadoras de GTPase
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Transtornos dos Movimentos
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Estados Unidos