Ruocco H H, Lopes-Cendes I, Li L M, Santos-Silva M, Cendes F
Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
Braz J Med Biol Res. 2006 Aug;39(8):1129-36. doi: 10.1590/s0100-879x2006000800016.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported. The objective of the present study was to perform MRI measurements of caudate, putamen, cerebral, and cerebellar volumes and correlate these findings with the length of the CAG repeat and clinical parameters. We evaluated 50 consecutive patients with HD using MRI volumetric measurements and compared them to normal controls. Age at onset of the disease ranged from 4 to 73 years (mean: 43.1 years). The length of the CAG repeat ranged from 40 to 69 (mean: 47.2 CAG). HD patients presented marked atrophy of the caudate and putamen, as well as reduced cerebellar and cerebral volumes. There was a significant correlation between age at onset of HD and length of the CAG repeat, as well as clinical disability and age at onset. The degree of basal ganglia atrophy correlated with the length of the CAG repeat. There was no correlation between cerebellar or cerebral volume and length of the CAG repeat. However, there was a tendency to a positive correlation between duration of disease and cerebellar atrophy. While there was a negative correlation of length of the CAG repeat with age at disease onset and with striatal degeneration, its influence on extrastriatal atrophy, including the cerebellum, was not clear. Extrastriatal atrophy occurs later in HD and may be related to disease duration.
亨廷顿舞蹈症（HD）是一种常染色体显性神经退行性疾病，对纹状体影响最为严重。然而，除了青少年型外，已有报道称小脑相对保留。本研究的目的是对尾状核、壳核、大脑和小脑体积进行MRI测量，并将这些结果与CAG重复序列长度和临床参数相关联。我们使用MRI体积测量法评估了50例连续的HD患者，并将他们与正常对照组进行比较。发病年龄范围为4至73岁（平均：43.1岁）。CAG重复序列长度范围为40至69（平均：47.2个CAG）。HD患者表现出尾状核和壳核明显萎缩，以及小脑和大脑体积减小。HD发病年龄与CAG重复序列长度之间、临床残疾程度与发病年龄之间存在显著相关性。基底神经节萎缩程度与CAG重复序列长度相关。小脑或大脑体积与CAG重复序列长度之间无相关性。然而，疾病持续时间与小脑萎缩之间存在正相关趋势。虽然CAG重复序列长度与发病年龄和纹状体变性呈负相关，但其对包括小脑在内的纹状体以外萎缩的影响尚不清楚。纹状体以外的萎缩在HD中出现较晚，可能与疾病持续时间有关。
