Autosomal dominant essential tremor: a novel family with anticipation.
Neurol Sci
; 34(5): 761-3, 2013 May.
Article
em En
| MEDLINE
| ID: mdl-23064782
ABSTRACT
Essential tremor (ET) is a common progressive movement disorder characterized by a clear genetic predisposition. In the last years, many efforts have been done to map susceptibility loci for ET. Here, we report a clinical and genetic study of a family with ET showing autosomal dominant inheritance and anticipation over three generations. The family has five affected members and exhibits a remarkable anticipation of age at onset of the disease along the generations. We excluded linkage to any of the three loci previously mapped in autosomal dominant ET families. Our data suggest the existence of an additional locus in which a repeat expansion is the possible genetic defect underlying ET.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Saúde da Família
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Repetições de Microssatélites
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Tremor Essencial
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Adult
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Aged
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Child, preschool
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article