De Rosa A, Pellegrino T, Pappatà S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
Parkinsonism Relat Disord. 2016 Feb;23:102-5. doi: 10.1016/j.parkreldis.2015.12.006. Epub 2015 Dec 18.
PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures.
Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln mutation in the SYNJ1 gene.
The Non-Motor Symptoms, the SCOPA-AUT, the Mayo Sleep Questionnaires and polysomnography were used to investigate non-motor signs (NMS), autonomic dysfunction and REM Behavioural Disorder (RBD). Cognitive functions were examined by an extensive battery of neuropsychological tests. In addition, motor and sensory nerve conduction studies and evoked laser potentials were performed. Cardiac sympathetic innervation was assessed in the two patients by (123)I-metaiodobenzylguanidine (MIBG) scintigraphy, computing early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates (WR).
Among the non-motor symptoms and autonomic signs, case 1 had cold intolerance, drooling and dysphagia, while case 2 had pain and urinary dysfunction. Both cases showed mood and behavioural disorders. RBD were not found, whereas the neuropsychological assessment revealed a progressive cognitive impairment. Neurophysiological studies revealed no abnormalities. Indexes of cardiac sympathetic innervation in the two patients did not differ from those of control subjects.
Our findings expand the phenotypic profile of SYNJ1-related parkinsonism. Preserved cardiac sympathetic function and absence of RBD suggest that PARK20 should be explained by a pathogenic mechanism different from Lewy Body pathology, or that the latter is not as widespread as idiopathic Parkinson's disease.
PARK20是一种与SYNJ1基因相关的罕见常染色体隐性帕金森综合征，其特征为疾病早发以及存在上核垂直凝视麻痹、痴呆、肌张力障碍和全身强直阵挛性癫痫等非典型症状。
对两名患有帕金森综合征且在SYNJ1基因中携带纯合Arg258Gln突变的同胞进行非运动特征和心脏交感神经支配情况评估。
使用非运动症状量表、自主神经功能障碍评分量表（SCOPA-AUT）、梅奥睡眠问卷和多导睡眠图来调查非运动体征（NMS）、自主神经功能障碍和快速眼动睡眠行为障碍（RBD）。通过一系列广泛的神经心理学测试来检查认知功能。此外，进行运动和感觉神经传导研究以及诱发激光电位检测。通过（123）I-间碘苄胍（MIBG）闪烁显像评估两名患者的心脏交感神经支配情况，计算早期和晚期心脏与纵隔（H/M）比值以及心肌清除率（WR）。
在非运动症状和自主神经体征方面，病例1有不耐寒、流涎和吞咽困难，而病例2有疼痛和排尿功能障碍。两例均表现出情绪和行为障碍。未发现RBD，而神经心理学评估显示存在进行性认知障碍。神经生理学研究未发现异常。两名患者的心脏交感神经支配指标与对照受试者无差异。
我们的研究结果扩展了SYNJ1相关帕金森综合征的表型谱。心脏交感神经功能保留且无RBD表明，PARK20应由不同于路易体病理的致病机制来解释，或者后者不像特发性帕金森病那样广泛存在。
