Huntington’s Chorea – Review, Clinical Characteristics, and Therapeutic Advances
Keywords:
Huntington’s chorea, choreic syndrome, significant invalidization, antisense oligonucleotides therapyAbstract
The disease starts usually at middle age and progresses to a significant invalidization and lethality for a period of 15-30 years. Age of onset may vary from early childhood to late age. The disease is caused by genetic mutation in the 4th chromosome, which leads to amplification of repeats of CAG nucleotide and production of the pathological protein called huntingtin. Clinically Huntington’s disease is represented by choreic syndrome with jerky involuntary movements affecting the limbs, head and body, cognitive impairment and psychiatric symptoms. The disease causes great invalidization of patients and their family. It worsens significantly their quality of life and unfortunately it has a lethal end. Medicine that modifies the progress of this disease has not been discovered, yet. Nevertheless, scientific efforts engage modern therapies using antisense nucleotides to reduce the quantity of expressed mutant proteins.
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Copyright (c) 2020 Elena Chorbadjieva, I. Milanov, V. Grozeva
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