Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.
Dulski J, Koga S, Prudencio M, Tipton PW, Ali S, Strongosky AJ, Rose JH, Parrales ZA, Dunmore JA, Jansen-West K, Petrucelli L, Dickson DW, Wszolek ZK.
Dulski J, et al.
Parkinsonism Relat Disord. 2023 Jul;112:105481. doi: 10.1016/j.parkreldis.2023.105481. Epub 2023 Jun 13.
Parkinsonism Relat Disord. 2023.
PMID: 37336025
The mutation, segregated with the PS phenotype (n = 4), was absent in gnomAD, and in silico predictions indicated it was pathogenic. Three young mutation carriers were monosymptomatic (prodromal), and three were asymptomatic. ...
The mutation, segregated with the PS phenotype (n = 4), was absent in gnomAD, and in silico predictions indicated it was pathogenic. …