| 概要 |
Perry syndrome is a rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized by TDP-43 inclusions indicating a pathological overlap with amyotrophic lateral sclerosis (ALS) and some forms of frontotemporal lobar degeneration (FTLD). Perry syndrome has recently been identified as being due to mutations in the DCTN1 gene, encoding the component of the dynactin complex.
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| 著者 |
Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK |
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| 著者 |
Newsway V, Fish M, Rohrer JD, Majounie E, Williams N, Hack M, Warren JD, Morris HR |
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