Louis Elan D, Mazzoni Pietro, Ma Karen J, Moskowitz Carol B, Lawton Arlene, Garber Anthony, Vonsattel Jean-Paul G
GH Sergievsky Center.
Clin Neuropathol. 2012 May-Jun;31(3):119-26. doi: 10.5414/np300414.
Essential tremor (ET), a progressive, age-associated disease, is one of the most common neurological disorders. Yet until recently, there had been few postmortem examinations so that the full range of pathological changes associated with this disease has not been catalogued.
We report a patient with ET who had a pattern of pathological change which to our knowledge has not previously been reported in ET or another neurological disease.
Clinical-pathological case report.
The patient had adult-onset, non-familial, kinetic arm tremor that gradually worsened. Voice and head tremors were also present. The clinical diagnosis was ET. She died at age 102. On postmortem examination, there was severe segmental loss of Purkinje cells, Bergmann gliosis and numerous torpedoes in the cerebellum. The other outstanding change was the presence of neurons in the cerebral cortex and hippocampus that contained an ubiquitinated, nuclear inclusion. These inclusions were not detected in Luxol fast blue/hematoxylin and eosin-stained sections.
This ET patient had a pattern of pathological change that has not been reported previously. This case further reinforces the view that ET is likely to be a heterogeneous family of degenerative diseases whose underlying pathological anatomy involves the cerebellum.
特发性震颤（ET）是一种与年龄相关的进行性疾病，是最常见的神经系统疾病之一。然而直到最近，尸检很少，以至于与该疾病相关的全部病理变化尚未被梳理清楚。
我们报告一例特发性震颤患者，其病理变化模式据我们所知此前在特发性震颤或其他神经系统疾病中未曾报道过。
临床病理病例报告。
该患者成年起病，非家族性，上肢运动性震颤且逐渐加重。还存在语音和头部震颤。临床诊断为特发性震颤。她102岁时去世。尸检发现，小脑存在严重的浦肯野细胞节段性缺失、伯格曼胶质细胞增生和大量的鱼雷样小体。另一个显著变化是大脑皮质和海马中存在含有泛素化核内包涵体的神经元。在鲁戈氏碘蓝/苏木精和伊红染色切片中未检测到这些包涵体。
该特发性震颤患者具有此前未报道过的病理变化模式。该病例进一步强化了这样一种观点，即特发性震颤可能是一组异质性的退行性疾病，其潜在的病理解剖涉及小脑。
