Huntington's disease: CAG genetics expands neurobiology
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2018, NeuroscienceCitation Excerpt :Clinically, HD is characterized by severe motor impairments, namely chorea, bradykinesia, incoordination and rigidity. Post-mortem examinations of HD brains revealed a massive loss of striatal neurons, with up to 95% of GABAergic MSNs (Gusella and MacDonald, 1995; Halliday et al., 1998). At the molecular level, it was proposed that soluble mutant huntingtin protein (mHtt) may be cytotoxic and, thereby, have detrimental effects on several cellular processes, including gene transcription, mitochondrial activity and vesicle trafficking, all features that contribute to the progression of neuronal cell death (Ross and Tabrizi, 2011).
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2011, Handbook of Clinical NeurologyCitation Excerpt :Huntington's disease (HD) (Chapters 1–5) is an autosomal-dominant and almost completely penetrant degenerative disorder caused by a CAG triplet repeat on chromosome 4p16.3 of more than 35 (Gusella et al., 1983; MacDonald et al., 1993; Bates, 2005). With increased CAG triplet repeats, the manifestation age decreases (anticipation) and the disease severity increases (The Huntington's Collaborative Research Group, 1993; Gusella and MacDonald, 1995). Although the usual manifestation age is between 30 and 40 years, rare CAG triplet repeats of more than 60 may produce juvenile HD (Walker, 2007).
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