Nagy Anna, Noyce Alastair, Velayos-Baeza Antonio, Lees Andrew J, Warner Thomas T, Ling Helen
Reta Lila Weston Institute of Neurological Studies UCL Institute of Neurology London United Kingdom.
Barts and the London School of Medicine and Dentistry London United Kingdom.
Mov Disord Clin Pract. 2015 Mar 16;2(2):182-186. doi: 10.1002/mdc3.12138. eCollection 2015 Jun.
Chorea-acanthocytosis (ChAc) is a neurodegenerative condition predominantly manifesting with chorea and often acanthocytes on peripheral blood film. Abnormal appearances with I-FP-CIT single-photon emission computed tomography (SPECT) have not previously been reported in ChAc. We describe 2 cases with typical presentations of ChAc and late development of parkinsonism with asymmetric reduction in presynaptic striatal uptake on I-FP-CIT SPECT. Case 1, a 50-year-old male, developed micrographia and limb bradykinesia 14 years after initial presentation at the age of 30. Case 2, a 42-year-old female presenting with vocal tics and generalized dystonia at the age of 25, developed tremor, bradykinesia, and rigidity 11 years into the disease course. These cases represent the best description to date of the natural history of ChAc, in which the early hyperkinetic clinical syndromes give way to a parkinsonian phenotype. This is consistent with a gradual deterioration of presynaptic nigrostriatal projections, reflected in the clinical parkinsonism and abnormal I FP-CIT SPECT.
舞蹈病-棘红细胞增多症（ChAc）是一种神经退行性疾病，主要表现为舞蹈症，外周血涂片上常出现棘红细胞。此前尚未有关于ChAc患者使用碘氟苯托品单光子发射计算机断层扫描（SPECT）出现异常表现的报道。我们描述了2例具有ChAc典型表现且后期发展为帕金森症的病例，其在碘氟苯托品SPECT检查中显示突触前纹状体摄取不对称减少。病例1为一名50岁男性，在30岁首次出现症状14年后出现小写症和肢体运动迟缓。病例2为一名42岁女性，25岁时出现发声抽动和全身性肌张力障碍，病程11年后出现震颤、运动迟缓及强直。这些病例代表了迄今为止对ChAc自然史的最佳描述，即早期的运动亢进临床综合征逐渐转变为帕金森症表型。这与突触前黑质纹状体投射的逐渐恶化相一致，这在临床帕金森症和异常的碘氟苯托品SPECT检查中得以体现。
