دورية أكاديمية
أعرض في EDS

Multiple clinical features of Huntington's disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration.

التفاصيل البيبلوغرافية
العنوان: Multiple clinical features of Huntington's disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration.
المؤلفون: Podvin S; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA., Reardon HT; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA., Yin K; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA., Mosier C; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA., Hook V; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA. vhook@ucsd.edu.; Department of Neurosciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA. vhook@ucsd.edu.; Department of Pharmacology, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA. vhook@ucsd.edu.
المصدر: Journal of neurology [J Neurol] 2019 Mar; Vol. 266 (3), pp. 551-564. Date of Electronic Publication: 2018 Jun 28.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Berlin ; New York, Springer-Verlag
مواضيع طبية MeSH: Huntington Disease*/genetics , Huntington Disease*/metabolism , Huntington Disease*/pathology , Huntington Disease*/physiopathology, Huntingtin Protein/*genetics , Trinucleotide Repeats/*genetics, Humans
مستخلص: Huntington's disease (HD) is a fatal neurodegenerative disease caused by mutant HTT gene expansions of CAG triplet repeat numbers that are inherited in an autosomal dominant manner. HD patients display multiple clinical features that are correlated with HTT CAG repeat numbers that include age of disease onset, motor dysfunction, cognitive deficits, compromised daily living capacity, and brain neurodegeneration. It is important to understand the significant relationships of the multiple HD clinical deficits correlated with the number of mutant HTT CAG expansions that are the genetic basis for HD disabilities. Therefore, this review highlights the significant correlations of the HD clinical features of age of onset, motor and cognitive disabilities, decline in living capabilities, weight loss, risk of death, and brain neurodegeneration with respect to their associations with CAG repeat lengths of the HTT gene. Quantitative HTT gene expression patterns analyzed in normal adult human brain regions demonstrated its distribution in areas known to undergo neurodegeneration in HD, as well as in other brain regions. Future investigation of the relationships of the spectrum of clinical HD features with mutant HTT molecular mechanisms will be important to gain understanding of how mutant CAG expansions of the HTT gene result in the devastating disabilities of HD patients.
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معلومات مُعتمدة: T32DA07315 National Institutes of Health
فهرسة مساهمة: Keywords: Cognition disorders; Huntington’s disease; Motor disorders; Neurodegeneration; Polyglutamine
المشرفين على المادة: 0 (HTT protein, human)
0 (Huntingtin Protein)
تواريخ الأحداث: Date Created: 20180630 Date Completed: 20190606 Latest Revision: 20200225
رمز التحديث: 20240628
DOI: 10.1007/s00415-018-8940-6
PMID: 29956026
قاعدة البيانات: MEDLINE
الوصف
تدمد:1432-1459
DOI:10.1007/s00415-018-8940-6