Ọrịa Huntington bụ ọrịa mkpụrụ ndụ ihe nketa na ọrịa neurodegenerative ketara eketa. Site na -ebibi neurons n'akụkụ ụfọdụ nke ụbụrụ, ọ na -ebute ọgba aghara moto na isi mgbaka nke nwere ike ibute mwepu nke nnwere onwe na ọnwụ. Achọpụtara mkpụrụ ndụ ihe nke mgbanwe ya na -ebute oria a n'ime afọ 90, mana ọrịa Huntington ka na -agwọ ọrịa ruo taa. Ọ na -emetụta otu onye n'ime mmadụ iri nọ na France, nke na -anọchite anya ihe dị ka ndị ọrịa 10.

A na -akpọkwa ya "Huntington's chorea" mgbe ụfọdụ n'ihi na njirimara kacha mara ọrịa ahụ bụ mmegharị nke onwe (akpọrọ choreic) ọ na -ebute. Agbanyeghị, ụfọdụ ndị ọrịa anaghị ebute ọrịa choreic yana mgbaàmà ọrịa ahụ sara mbara: na nsogbu psychomotor ndị a ka a na -agbakwụnyekarị nsogbu uche na akparamagwa omume. Nsogbu mgbakasị ahụ ndị a na -eme ugboro ugboro na mbido ọrịa (na mgbe ụfọdụ na -apụta tupu nsogbu moto) nwere ike ibute nkwarụ na igbu onwe onye. Mgbaàmà na-apụtakarị ihe dị ka afọ 40-50, mana a na-ahụ ụdị ọrịa mbụ na mbubreyo. Rịba ama na ndị niile na -ebu mkpụrụ ndụ ihe nketa gbanwere otu ụbọchị na -ekwupụta ọrịa ahụ.

Onye dibịa America bụ George Huntington kọwara ọrịa Huntington na 1872, mana ọ bụ rue 1993 ka amatala mkpụrụ ndụ ihe nketa. Edebere ya na obere ogwe aka nke chromosome 4 wee kpọọ ya NJ 15. Ihe kpatara ọrịa a bụ mmụba na mkpụrụ ndụ ihe nketa nke na -achịkwa mmepụta nke protein huntingtin. Amabeghị ọrụ nke protein a ka amabeghị, mana anyị maara na mmụba nke mkpụrụ ndụ ihe nketa na -eme ka ọ bụrụ nsí: ọ na -ebute nkwụnye ego n'etiti ụbụrụ, karịa na oghere nke neurons nke akwara caudate, mgbe ahụ nke cortex ụbụrụ. Agbanyeghị, ekwesịrị ịmara na ejikọtaghị ọrịa Huntington na IT15 yana enwere ike bute ya site n'ịgbanwe mkpụrụ ndụ ihe nketa ndị ọzọ. (1)

Enwere ike ibufe ọrịa Huntington site n'ọgbọ ruo n'ọgbọ (a na -akpọ ya "autosomal dominant") yana ihe ize ndụ nke ibunye ụmụ ya bụ otu n'ime abụọ.

Enyocha mkpụrụ ndụ ihe nketa nke ọrịa na ndị nọ n'ihe egwu (yana akụkọ ezinụlọ) nwere ike, mana ndị ọrụ ahụike na -elekọta ya nke ọma, n'ihi na nnwale a abụghị enweghị nsonaazụ mmụọ.

Nchọpụta ọmụmụ nwa ga -ekwe omume, mana iwu kwadoro ya nke ọma, n'ihi na ọ na -ewelite ajụjụ gbasara ihe ọmụmụ ndụ. Agbanyeghị, nne nke na -atụle njedebe afọ ofufo nke afọ ofufo ma ọ bụrụ na nwa ebu n'afọ ya eburu mkpụrụ ndụ ihe gbanwere nwere ikike ịrịọ nyocha a tupu amụọ nwa.

Ka ọ dị ugbu a, enweghị ọgwụgwọ ọgwụgwọ yana naanị ọgwụgwọ nke mgbaàmà nwere ike belata onye ọrịa ma belata mmebi ahụ na nke mmụọ: ọgwụ psychotropic iji belata nsogbu mgbaka na oge ịda mbà n'obi nke na -agakarị na ọrịa. ; ọgwụ neuroleptic iji belata mmegharị ọrụ choreic; nwughari site na physiotherapy na ọgwụgwọ okwu.

A na -aga n'ihu na -achọ ọgwụgwọ n'ọdịnihu ka a na -atụgharịgharị eriri akwara nwa ebu n'afọ iji mee ka ọrụ moto nke ụbụrụ kwụsị. N’afọ 2008, ndị ọrụ nyocha si ụlọ ọrụ Pasteur na CNRS gosipụtara ikike ụbụrụ nwere ịrụzi onwe ya site na ịchọpụta isi mmalite nke mmepụta neuron. Nchọpụta a na -ewelite olile anya ọhụrụ maka ịgwọ ọrịa Huntington na ọnọdụ neurodegenerative ndị ọzọ, dị ka ọrịa Parkinson. (2)

Ọnwụnwa ọgwụgwọ mkpụrụ ndụ ihe nketa na -agakwa n'ihu n'ọtụtụ mba ma na -aga n'ọtụtụ ụzọ, otu n'ime ha bụ igbochi ngosipụta nke mkpụrụ ndụ huntingtin na -agbanwe agbanwe.