显微镜下，Huntington病患者尾状核中二乙基溴乙酰胺丢失伴有神经胶质增生。中年发病。因4号染色体异常编码引起，该基因编码的蛋白质包括增多的三核苷酸重复序列。重复的序列越多,疾病发作时间越早。自然形成的新突变比较少见。
Microscopically, the caudate nucleus in Huntington's disease demonstrates loss of neurons along with gliosis. The onset of this disease occurs in middle age. This disease results from an abnormal gene on chromosome 4 which codes for a protein containing increased trinucleotide repeat sequences. The greater the number of repeats, the earlier the onset of the disease. Spontanenous new mutations are uncommon.