Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
Cerebellum
; 15(5): 578-86, 2016 10.
Article
em En
| MEDLINE
| ID: mdl-27287737
ABSTRACT
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. This paper summarizes the key emerging issues in FXTAS as presented at the Second International Conference on the FMR1 Premutation Basic Mechanisms & Clinical Involvement in 2015. The topics discussed include phenotype-genotype relationships, neurobehavioral function, and updates on FXTAS genetics and imaging.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia
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Tremor
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Proteína do X Frágil da Deficiência Intelectual
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Síndrome do Cromossomo X Frágil
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Heterozigoto
Limite:
Animals
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Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article