The Search for Sensitive Biomarkers in Presymptomatic Huntington Disease
نویسندگان
چکیده
منابع مشابه
The presymptomatic phase of Huntington disease.
Huntington disease is a neurodegenerative disorder transmitted as an autosomal dominant trait. It is the first neurological disease for which presymptomatic testing has been available for 20years in France. Follow-up of mutation carriers provided a better understanding of the presymptomatic phase of the disease and will change medical practice. Studying this phase led to the identification of c...
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15 صفحه اولHuntington ' s disease : who decides ? Selection for presymptomatic testing for
I was interested to read the report of Goodship et al (J Med Genet 1995;32:746-8) of monozygotic (MZ) twins with a 22ql deletion who were discordant for cardiac defects. I have recently met a similar family where all the affected members have had a 22ql deletion detected by FISH. Twin 1 has a typical facial appearance of the velocardiofacial syndrome (figure) with nasal speech but no cardiac de...
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OBJECTIVE To evaluate quantitative measures of eye movements as possible biomarkers in prediagnostic and early stages of Huntington disease (HD). METHODS The study sample (n = 215) included individuals both at risk and recently diagnosed with HD. All participants completed a uniform clinical evaluation which included administration of the Unified Huntington's Disease Rating Scale (UHDRS) by a...
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BACKGROUND AND PURPOSE The neostriatum is known to be affected in HD. In this work, our aim was to determine whether microstructural and volumetric alterations occur in the neostriatum of presymptomatic HD gene carriers and in patients with early-stage HD. MATERIALS AND METHODS We studied a group of 15 presymptomatic gene carriers who were far from the estimated symptom onset (16% probability...
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ژورنال
عنوان ژورنال: Journal of Cerebral Blood Flow & Metabolism
سال: 2012
ISSN: 0271-678X,1559-7016
DOI: 10.1038/jcbfm.2012.17