Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2
Clin Neurophysiol
; 120: 632-635, 2009. graf
Artigo
em Inglês
| CUMED
| ID: cum-42344
Biblioteca responsável:
CU422.1
ABSTRACT
A characteristic feature of spinocerebellar ataxia type 2 (SCA2) is saccadic slowing at early disease stages. We sought to determine whether this sign is detectable before clinical manifestation and quantifies the disease progression throughout life in linear fashion. In a specialized ataxia clinic, 54 presymptomatic carriers of SCA2 polyglutamine expansions and 56 relatives without mutation were documented with regard to their maximal saccade velocit Spinocerebellar ataxia type 2 Among the control individuals, a significant effect of aging on MSV was observed. After elimination of this age influence through a matched-pair approach, a presymptomatic decrease of MSV could be shown. The MSV reduction was stronger in carriers of large expansions. In the years before calculated disease manifestation, the MSV impairment advanced insidiously.Saccade velocity is a sensitive SCA2 endophenotype that reflects early pontine degenerationPolyglutamine expansion and may be a useful diagnostic parameter before the onset of ataxia. Significance:
Future neuroprotective therapies of polyglutamine neurodegeneration may be assessed by MSV from earliest to prefinal disease stages...(AU)
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Coleções:
Bases de dados nacionais
/
Cuba
Base de dados:
CUMED
Limite:
Humanos
Idioma:
Inglês
Revista:
Clin Neurophysiol
Ano de publicação:
2009
Tipo de documento:
Artigo
Instituição/País de afiliação:
Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias/Cuba
/
Hospital Karlsbad-Langensteinbach/Germany
/
University Hospital Bonn/Germany
/
University Hospital Frankfurt am Main/Germany
/
University Hospital, Frankfurt am Main/Germany