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Clin Neurophysiol. 2009 Mar;120(3):632-5. doi: 10.1016/j.clinph.2008.12.040. Epub 2009 Feb 7.

Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2.

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  • 1Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), Holguín, Cuba.

Abstract

OBJECTIVE:

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.

METHODS:

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 velocity (MSV).

RESULTS:

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.

CONCLUSION:

Saccade velocity is a sensitive SCA2 endophenotype that reflects early pontine degeneration 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.

PMID:
19201647
[PubMed - indexed for MEDLINE]
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