RESUMO
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.
