Shinotoh H, Thiessen B, Snow B J, Hashimoto S, MacLeod P, Silveira I, Rouleau G A, Schulzer M, Calne D B
Neurodegenerative Disorders Centre, University of British Columbia, Canada.
Neurology. 1997 Oct;49(4):1133-6. doi: 10.1212/wnl.49.4.1133.
We performed [18F]6-fluoro-L-dopa (6-FD) and [11C]raclopride (RAC) PET studies in six patients with Machado-Joseph disease (MJD) (age, 17 to 61 years; duration of illness, 3 to 10 years), normal controls (n = 10 in 6-FD-PET, n = 8 in RAC-PET), and patients with idiopathic parkinsonism (n = 15 in 6-FD-PET). The youngest patient with MJD had prominent dystonia and pyramidal features (type 1 MJD), whereas the remainder were prominently ataxic (types 2 and 3 MJD). Striatal RAC binding was normal in patients with MJD. Striatal 6-FD influx constants (Ki) were low in the range of idiopathic parkinsonism in two patients with MJD (youngest and oldest patients), whereas striatal Ki were normal in the remaining patients with MJD. The impairment of the nigrostriatal dopaminergic pathway did not correlate with the phenotype, CAG repeat length, disease duration, or age of onset of patients with MJD. Our results suggest that striatal D2 receptors are normal and the nigral damage is diverse in MJD.
我们对6例Machado-Joseph病（MJD）患者（年龄17至61岁；病程3至10年）、正常对照者（6-FD-PET检查10例，RAC-PET检查8例）以及特发性帕金森病患者（6-FD-PET检查15例）进行了[18F]6-氟-L-多巴（6-FD）和[11C]雷氯必利（RAC）PET研究。最年轻的MJD患者有明显的肌张力障碍和锥体束征（1型MJD），而其余患者主要表现为共济失调（2型和3型MJD）。MJD患者的纹状体RAC结合正常。在2例MJD患者（最年轻和最年长患者）中，纹状体6-FD流入常数（Ki）处于特发性帕金森病范围内较低水平，而其余MJD患者的纹状体Ki正常。黑质纹状体多巴胺能通路的损害与MJD患者的表型、CAG重复长度、病程或发病年龄均无相关性。我们的结果表明，MJD患者纹状体D2受体正常，黑质损害多样。
