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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. …
DCTN1-related Parkinson-plus disorder (Perry syndrome).
Richardson D, McEntagart MM, Isaacs JD. Richardson D, et al. Pract Neurol. 2020 Aug;20(4):317-319. doi: 10.1136/practneurol-2020-002505. Epub 2020 May 20. Pract Neurol. 2020. PMID: 32434902
Ventilatory support can improve life expectancy but this depends upon its recognition; overall its prognosis remains poor. We report a patient with DCTN1-related Parkinson-plus disorder, in whom genetic confirmation came only after death....
Ventilatory support can improve life expectancy but this depends upon its recognition; overall its prognosis remains poor. We report …
A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.
Zhang J, Wang H, Liu W, Wang J, Zhang J, Chang X, Huang S, Pang X, Guo J, Wang Q, Zhang W. Zhang J, et al. Neurol Sci. 2021 Sep;42(9):3695-3705. doi: 10.1007/s10072-020-04962-w. Epub 2021 Jan 14. Neurol Sci. 2021. PMID: 33443672
Single nucleotide variants (SNVs) and small insertions/deletions (INDELs) were further predicted with Mutation Taster, Polymorphism Phenotyping v2 (PolyPhen-2), and Sorting Intolerant From Tolerant (SIFT) and compared to the Single Nucleotide Polymorphism Database(dbSNP), …
Single nucleotide variants (SNVs) and small insertions/deletions (INDELs) were further predicted with Mutation Taster, Polymorphism P …
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.
Čierny M, Hooshmand SI, Fee D, Tripathi S, Dsouza NR, La Pean Kirschner A, Zimmermann MT, Brennan R. Čierny M, et al. Parkinsonism Relat Disord. 2020 Aug;77:110-113. doi: 10.1016/j.parkreldis.2020.06.006. Epub 2020 Jun 25. Parkinsonism Relat Disord. 2020. PMID: 32712562
Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150(Glued). All eight variants causing Perry syndrome, as well as Tyr78His, are located at site …
Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stabili …
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism.
Aji BM, Medley G, O'Driscoll K, Larner AJ, Alusi SH. Aji BM, et al. J Neurol Sci. 2013 Jul 15;330(1-2):117-8. doi: 10.1016/j.jns.2013.04.008. Epub 2013 Apr 28. J Neurol Sci. 2013. PMID: 23628468
Perry syndrome needs to be considered in the differential diagnosis of Parkinsonism, particularly in autosomal dominant pedigrees. Diagnosis early in the disease course may facilitate monitoring and prompt intervention to avoid potentially fatal respiratory failure....
Perry syndrome needs to be considered in the differential diagnosis of Parkinsonism, particularly in autosomal dominant pedigrees. Diagnosis …