Department of Neurology, Kokura Memorial Hospital, Fukuoka, Japan.
Parkinsonism Relat Disord. 2010 Nov;16(9):612-4. doi: 10.1016/j.parkreldis.2010.07.001. Epub 2010 Aug 11.
Perry syndrome is a familial parkinsonism associated with central hypoventilation, mental depression, and weight loss. Previously, this very rare syndrome has been reported in only 7 families worldwide including in one Japanese family. We recently identified an additional family with Perry syndrome with DCTN1 mutation residing in Japan. The pedigree contains 19 family members spanning three generations, with four affected individuals. Affected members with early stage disease in this family presented with marked autonomic dysfunction including orthostatic hypotension and decreased cardiac uptake with [123]I-metaiodobenzylguanidine scintigram features that have not been described in previous cases. Because of central hypoventilation, all affected members need ventilation assistance, which is thought beneficial for prolongation of survival time as well as improving quality of life in this syndrome.
佩里综合征是一种家族性帕金森病，伴有中枢性通气不足、精神抑郁和体重减轻。以前，这种非常罕见的综合征仅在全球 7 个家庭中报道过，包括一个日本家庭。我们最近在日本发现了另一个患有佩里综合征的家庭，其 DCTN1 突变。该家系包含 19 名成员，跨越三代，有 4 名受影响的个体。该家族中早期发病的受影响成员表现出明显的自主神经功能障碍，包括直立性低血压和[123]I-间碘苄胍闪烁显像特征，这些特征在前述病例中未描述过。由于中枢性通气不足，所有受影响的成员都需要通气辅助，这被认为有利于延长生存时间和提高生活质量。
