Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Parkinsonism Relat Disord
; 71: 44-45, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-32018151
ABSTRACT
We present a case of mild, adult-onset dopa-responsive dystonia (DRD) with a heterozygous mutation in the tyrosine hydroxylase (TH) gene. We propose that this genetic state may have led to partial enzyme deficiency. Future studies should attempt to identify and characterize the phenotype of other patients with single TH variants.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tirosina 3-Mono-Oxigenase
/
Distúrbios Distônicos
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Aged
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Humans
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Male
Idioma:
En
Revista:
Parkinsonism Relat Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2020
Tipo de documento:
Article