Dubas-Slemp Halina, Tylec Aneta, Michałowska-Marmurowska Halina, Spychalska Katarzyna
Katedra i Klinika Psychiatrii UM w Lublinie.
Psychiatr Pol. 2012 Sep-Oct;46(5):915-22.
Huntington's disease is a rare, although commonly known neurodegenerative disease, caused by dynamic point mutation within the IT-15; it is inherited autosomally dominantly. IT-15 mutation includes multiple (36-250) repetitions of trinucleotide sequence (CAG) encoding a glutamine at the amino end of Huntington (mHtt). It is one of the nine polyglutamine diseases (PolyQ), characterized by a CAG repeat. The pathophysiology of Huntington's disease is associated with dysfunction and loss of neurons and gliosis within the striatum, particularly around the caudate nucleus and frontal lobes. Huntington's disease is characterised by the triad of symptoms: cognitive, motor and psychopathological disturbances. Approximately 80% of patients with HD show some of the mental disorders. The most common are affective disorders, in 30-40% symptoms of depression are present. Depression often precedes the onset of neurological symptoms.
亨廷顿舞蹈症是一种罕见的神经退行性疾病,尽管广为人知,它由IT-15基因内的动态点突变引起,呈常染色体显性遗传。IT-15突变包括编码亨廷顿蛋白(mHtt)氨基端谷氨酰胺的三核苷酸序列(CAG)多次(36 - 250次)重复。它是九种聚谷氨酰胺疾病(PolyQ)之一,其特征为CAG重复。亨廷顿舞蹈症的病理生理学与纹状体尤其是尾状核和额叶周围的神经元功能障碍、丧失以及胶质增生有关。亨廷顿舞蹈症的特征是具有认知、运动和精神病理障碍三联征。约80%的亨廷顿舞蹈症患者会出现一些精神障碍。最常见的是情感障碍,30% - 40%的患者有抑郁症状。抑郁通常先于神经症状出现。