Kim David Dongkyung, Alghefari Huda, Jenkins Mary, Ang Lee-Cyn, Pasternak Stephen H
Department of Clinical Neurological Sciences Western University London Ontario Canada.
Department of Pathology and Laboratory Medicine Western University London Ontario Canada.
Mov Disord Clin Pract. 2021 May 27;8(5):713-716. doi: 10.1002/mdc3.13235. eCollection 2021 Jul.
Perry syndrome is a rare genetic parkinsonian disorder with TAR DNA binding protein 43 (TDP-43) pathology clinically presenting with parkinsonism, neuropsychiatric features, weight loss, and central hypoventilation. As respiratory complications are often the cause of death, studies likely show the early stage of the neurodegenerative process. Because of the rarity of this condition, few studies exist, and each case provides insight into pathological findings in this neurodegenerative condition.
To study the clinical and pathological correlations of an autopsy case of Perry syndrome.
The patient was a woman in her 50s with Perry syndrome and a gene mutation. Between October 2016 and July 2019, she underwent postmortem and pathological examination at University Hospital in London, Ontario, Canada. Data were obtained through clinical pathological examination.
Microscopy showed significant neuronal loss with pigmentary incontinence and gliosis in the substantia nigra. There was no atrophy elsewhere, including the frontal and cingulate cortex. Intraneuronal cytoplasmic TDP-43 inclusions and neurites were noticed in a moderate number in the substantia nigra and midbrain and were sparsely noticed in the basal ganglia, thalamus, thoracic motor neuron, posterior nucleus of the hypothalamus, and rostral ventral medulla. β-Amyloid, Lewy body, and tau pathologies were absent. Rare axonal swelling was identified at the rostral ventrolateral medulla.
This study confirms that Perry syndrome is characterized by TDP-43 pathology with absent Lewy bodies or tau pathology. These findings support the hypothesis of dysfunctional neurons in the medulla and hypothalamus, which may respectively correlate to the clinical symptoms of hypoventilation and weight loss in Perry syndrome.
佩里综合征是一种罕见的遗传性帕金森氏症，伴有TAR DNA结合蛋白43（TDP - 43）病理改变，临床表现为帕金森症、神经精神症状、体重减轻和中枢性通气不足。由于呼吸并发症常为死亡原因，相关研究可能显示了神经退行性变过程的早期阶段。鉴于该病症罕见，相关研究较少，每例病例都为这种神经退行性疾病的病理发现提供了见解。
研究一例佩里综合征尸检病例的临床与病理相关性。
患者为一名50多岁患有佩里综合征且有基因突变的女性。2016年10月至2019年7月期间，她在加拿大安大略省伦敦市大学医院接受了尸检和病理检查。数据通过临床病理检查获得。
显微镜检查显示黑质有显著的神经元丢失，伴有色素失禁和胶质细胞增生。其他部位无萎缩，包括额叶和扣带回皮质。在黑质和中脑中度发现神经元内细胞质TDP - 43包涵体和神经突，在基底神经节、丘脑、胸段运动神经元、下丘脑后核和延髓腹侧头端稀疏发现。无β淀粉样蛋白、路易小体和tau病理改变。在延髓腹侧头端发现罕见的轴突肿胀。
本研究证实佩里综合征的特征是TDP - 43病理改变，无路易小体或tau病理改变。这些发现支持延髓和下丘脑神经元功能障碍的假说，这可能分别与佩里综合征的通气不足和体重减轻的临床症状相关。
