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Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. [9] [1] A general lack of coordination and an unsteady gait often follow. [2]
Neuroferritinopathy is classified as a late-onset basal ganglia disease and is a dominantly inherited neurodegenerative disease. [3] Four different alleles are responsible for neuroferritinopathy. Three arise from nucleotide insertions in the ferritin light chain (FTL) polypeptide gene while the fourth arises from a missense mutation in the FTL ...
Athetosis is a symptom primarily caused by the marbling, or degeneration of the basal ganglia. [citation needed] This degeneration is most commonly caused by complications at birth or by Huntington's disease, in addition to rare cases in which the damage may also arise later in life due to stroke or trauma.
Huntington's disease is a neurodegenerative disease caused by mutations in a single gene HTT, that encodes for huntingtin protein. Symptoms include cognitive impairment and this usually declines further into dementia. [86] The first main symptoms of Huntington's disease often include: difficulty concentrating; memory lapses
Hyperkinesia, more specifically chorea, is the hallmark symptom of Huntington's disease, formerly referred to as Huntington's chorea. Appropriately, chorea is derived from the Greek word, khoros, meaning "dance." The extent of the hyperkinesia exhibited in the disease can vary from solely the little finger to the entire body, resembling ...
This is the case for Huntington's disease, where the trinucleotide repeat encodes a long stretch of glutamine residues. When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found (ex. fragile X ) or many genes through a dominant negative effect (ex. myotonic dystrophy ).
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