Autonomic failures in Perry syndrome with DCTN1 mutation

作者：Ohshima Sachiko; Tsuboi Yoshio^*; Yamamoto Akifumi; Kawakami Masato; Farrer Matthew J; Kira Jun ichi; Shii Hirofumi

来源：Parkinsonism & Related Disorders, 2010, 16(9): 612-614.

DOI：10.1016/j.parkreldis.2010.07.001

• Perry syndrome
• Parkinsonism
• Autonomic failure
• DCTN1

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 af

• 出版日期2010-11