Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice
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منابع مشابه
99mTc-TRODAT-1 SPECT Imaging in Early and Late Onset Parkinson’s Disease
Objective(s): 99mTc-TRODAT-1, which binds to the dopamine transporter, could be used to image the dopaminergic system in diagnosis of Parkinson’s disease (PD). PD can be classified into two groups: late onset Parkinson’s disease (LOPD) and early onset Parkinson’s disease (EOPD). In this study we tried to determine the TRODAT SPECT findings in EOPD as compared to LOPD.Methods: Fifteen patients w...
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BACKGROUND Age at onset of Huntington's disease (HD) is largely determined by the CAG trinucleotide repeat length in the HTT gene. Importantly, the CAG repeat undergoes tissue-specific somatic instability, prevalent in brain regions that are disease targets, suggesting a potential role for somatic CAG repeat instability in modifying HD pathogenesis. Thus, understanding underlying mechanisms of ...
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Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the HTT gene encoding huntingtin. The disease has an insidious course, typically progressing over 10-15 years until death. Currently there is no effective disease-modifying therapy. To better understand the HD pathogenic process we have developed genetic HTT CAG...
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Mary Y. Heng,1,2 Sara J. Tallaksen-Greene,2 Peter J. Detloff,3 and Roger L. Albin1,2,4 1Neuroscience Graduate Program and 2Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109, 3Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, Alabama 36294, and 4Geriatrics Research, Education, and Clinical Center, Ann Arbor Veterans Admin...
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Huntington's disease (HD) is a neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in exon 1 of the HTT gene. Longer repeat sizes are associated with increased disease penetrance and earlier ages of onset. Intergenerationally unstable transmissions are common in HD families, partly underlying the genetic anticipation seen in this disorder. HD CAG knock-in mouse mode...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2002
ISSN: 1460-2083
DOI: 10.1093/hmg/11.6.633