QUALITY OF LIFE IMPAIRMENTS IN HUNTINGTON'S DISEASE (LITERATURE REVIEW AND OWN DATA)
Keywords:
Keywords: Huntington's disease, chorea, anticipation phenomenon, dementia, apathyAbstract
Abstract: Huntington's disease (HD) is a rare, incurable, hereditary neurological
disorder that causes the progressive breakdown of nerve cells in the brain. Huntington's
chorea is a progressive neurodegenerative hereditary disorder that is transmitted from
generation to generation in an autosomal dominant manner. Huntington's chorea occurs
in 4-6 cases per 100,000 population (4-6:100,000). The classic symptom is chorea,
which is the appearance of hyperkinesis, i.e. uncontrolled movements. This is one of
the main features of the disease, which is considered to be the anticipation
phenomenon, i.e. the disease progresses gradually and begins at a young age [1]. The
mutant huntingtin gene has a repeat of the trinucleotide sequence CAG from 40 to 80.
The pathogenesis of HD is multifaceted and involves glutamine aggregation,
mitochondrial and oxidative stress, mitochondrial-related pathway dysfunction, and
DNA damage. Currently, two drugs, tetrabenazine and deutetrabenazine, are approved
for the treatment of HD.
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