PREVALENCE OF FMR1 EXPANSIONS IN MOVEMENT DISORDERS
PREVALENCE OF FMR1 EXPANSIONS IN MOVEMENT DISORDERS
批准号:
7719520
负责人:
DEBORAH A HALL
金额:
$0.46万
依托单位国家:
美国
项目类别:
财政年份:
2008
资助国家:
美国
项目状态:
已结题
起止时间:
2008-04-01 至 2008-05-31
关键词:
AgeAge of OnsetAtaxiaClinicComputer Retrieval of Information on Scientific Projects DatabaseDiagnosisEtiologyFMR1Fragile X GeneFundingGene MutationGenesGrantIndividualInstitutionMeasuresMovement DisordersNeurologicOutcomeParkinsonian DisordersPhenotypePrevalencePublic HealthRecruitment ActivityResearchResearch PersonnelResearch Project GrantsResourcesSourceSubgroupTestingTremorUnited States National Institutes of Healthgenetic risk factorimproved
中文摘要
点击翻译按钮获取中文摘要
英文摘要
This subproject is one of many research subprojects utilizing the
resources provided by a Center grant funded by NIH/NCRR. The subproject and
investigator (PI) may have received primary funding from another NIH source,
and thus could be represented in other CRISP entries. The institution listed is
for the Center, which is not necessarily the institution for the investigator.
Dr. Hall's research project is to determine the prevalence of fragile X gene mutations in subjects with tremor, ataxia, and/or parkinsonism. Dr. Hall will recruit subjects from her clinics with the three phenotypes and gene testing. The primary outcomes to be measured are the prevalence of gene mutations in the three groups combined and each subgroup. The age of onset, age of diagnosis of neurological signs, and correlations the gene mutation are also outcomes to be measured. This study is important because it may elucidate the etiology of genetic risk factors and result in improved diagnosis and treatment of individuals with illnesses that represent an important public health problem.
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