Greenstein Penny E, Vonsattel Jean-Paul G, Margolis Russell L, Joseph Jeffrey T
Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Department of Pathology, Columbia Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA.
Mov Disord. 2007 Jul 30;22(10):1416-1423. doi: 10.1002/mds.21417.
Huntington's disease like-2 (HDL-2) neurodegeneration is a recently described autosomal dominant disorder with features similar to Huntington's disease (HD). Only one case report has described neuropathology from an affected patient. We describe the clinical presentation and illustrate the pathology in two additional molecularly confirmed patients, compare these with the previously published case, and contrast them with HD. We examined two patients with HDL-2. Their charts were reviewed, their brains were examined using standard neuropathology techniques, including immunoperoxidase stains, and their diagnoses were confirmed with a PCR-based assay for repeat length. The first patient presented with obsessive suspiciousness, while the second had depression and decreased visual acuity. Both patients developed increased tone and cogwheel rigidity, but neither developed choreoathetosis. Extensive degeneration affected the caudate nucleus and putamen, especially dorsally and laterally. In addition, the first patient showed lateral temporal, lateral frontal, and orbitofrontal cortical atrophy, while the second patient displayed marked degeneration in the occipital and parietal cortices. Neither patient showed significant changes in the cerebellum or brainstem. Both cases had ubiquitin-immunoreactive neuronal intranuclear inclusions (NII). The patients with of HDL-2 reviewed here were remarkable for significant frontal inhibition with parkinsonism, a lack of choreiform movements, and African ancestry. Pathologically, HDL-2 is similar to HD in its effect on the neostriatum but may differ, at least in some cases, in its degree of focal cortical involvement, including the occipital lobe.
亨廷顿病样2型（HDL-2）神经退行性变是一种最近描述的常染色体显性疾病，具有与亨廷顿病（HD）相似的特征。仅有一份病例报告描述了一名患病患者的神经病理学情况。我们描述了另外两名经分子确诊患者的临床表现并展示其病理学特征，将这些与之前发表的病例进行比较，并与HD进行对比。我们检查了两名HDL-2患者。查阅了他们的病历，使用包括免疫过氧化物酶染色在内的标准神经病理学技术检查了他们的大脑，并用基于聚合酶链反应的重复长度检测法确认了他们的诊断。第一名患者表现为强迫性猜疑，而第二名患者有抑郁和视力下降症状。两名患者均出现肌张力增高和齿轮样强直，但均未出现舞蹈手足徐动症。广泛的变性影响尾状核和壳核，尤其是背侧和外侧。此外，第一名患者表现为颞叶外侧、额叶外侧和眶额皮质萎缩，而第二名患者枕叶和顶叶皮质出现明显变性。两名患者小脑和脑干均未出现明显变化。两例均有泛素免疫反应性神经元核内包涵体（NII）。本文所回顾的HDL-2患者的显著特点是伴有帕金森症的明显额叶抑制、无舞蹈样动作以及非洲裔血统。在病理上，HDL-2对新纹状体的影响与HD相似，但至少在某些情况下，其局灶性皮质受累程度可能不同，包括枕叶。
