Research & Literature

DCTN1 p.K56R in progressive supranuclear palsy.

Gustavsson EK, Trinh J, Guella I, et al.

Parkinsonism & related disorders 2016; (28()):56-61.

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Konno T, Ross OA, Teive HAG, et al.

Parkinsonism & related disorders 2017; (41()):14-24 doi:10.1016/j.parkreldis.2017.06.004.

Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy.

Mishima T, Kasanuki K, Koga S, et al.

Parkinsonism & related disorders 2017; (42()):85-89 doi:10.1016/j.parkreldis.2017.06.003.

Dysphagia in Perry Syndrome: Pharyngeal Pressure in Two Cases.

Umemoto G, Tsuboi Y, Furuya H, et al.

Case reports in neurology 2017; (9(2)):161-167 doi:10.1159/000457900.

Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.

Mishima T, Koga S, Lin WL, et al.

Journal of neuropathology and experimental neurology 2017; (76(8)):676-682 doi:10.1093/jnen/nlx049.

Establishing diagnostic criteria for Perry syndrome.

Mishima T, Fujioka S, Tomiyama H, et al.

Journal of neurology, neurosurgery, and psychiatry 2018; (89(5)):482-487 doi:10.1136/jnnp-2017-316864.

DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.

Honda H, Sasagasako N, Shen C, et al.

Parkinsonism & related disorders 2018; (51()):105-110 doi:10.1016/j.parkreldis.2018.02.038.

DCTN1-related Parkinson-plus disorder (Perry syndrome).

Richardson D, McEntagart MM, Isaacs JD

Practical neurology 2020; (20(4)):317-319 doi:10.1136/practneurol-2020-002505.

Shifting Tides Toward a Proactive Patient-Centered Approach in Dysphagia Management of Neurodegenerative Disease.

Rogus-Pulia NM, Plowman EK

American journal of speech-language pathology 2020; (29(2S)):1094-1109 doi:10.1044/2020_AJSLP-19-00136.

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.

Čierny M, Hooshmand SI, Fee D, et al.

Parkinsonism & related disorders 2020; (77()):110-113 doi:10.1016/j.parkreldis.2020.06.006.

Cognitive and behavioral profile of Perry syndrome in two families.

Milanowski Ł, Sitek EJ, Dulski J, et al.

Parkinsonism & related disorders 2020; (77()):114-120 doi:10.1016/j.parkreldis.2020.05.019.

Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria.

Tsuboi Y, Mishima T, Fujioka S

Journal of movement disorders 2021; (14(1)):1-9 doi:10.14802/jmd.20060.

Pregnancy in congenital central hypoventilation syndrome.

Maloney MA, Keens TG, Vanderlaan MB, Perez IA

American journal of obstetrics & gynecology MFM 2020; (2(4)):100237 doi:10.1016/j.ajogmf.2020.100237.

Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease.

Mishima T, Fujioka S, Nishioka K, et al.

Parkinsonism & related disorders 2021; (83()):49-53 doi:10.1016/j.parkreldis.2020.12.017.

DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.

Deshimaru M, Kinoshita-Kawada M, Kubota K, et al.

International journal of molecular sciences 2021; (22(8)) doi:10.3390/ijms22083985.

Neuropathology of Perry Syndrome: Evidence of Medullary and Hypothalamic Involvement.

Kim DD, Alghefari H, Jenkins M, et al.

Movement disorders clinical practice 2021; (8(5)):713-716 doi:10.1002/mdc3.13235.

Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

Dulski J, Cerquera-Cleves C, Milanowski L, et al.

European journal of neurology 2021; (28(12)):4010-4021 doi:10.1111/ene.15048.

L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome.

Dulski J, Cerquera-Cleves C, Milanowski L, et al.

Parkinsonism & related disorders 2022; (100()):19-23 doi:10.1016/j.parkreldis.2022.05.023.

Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series.

Boardman J, Mascareno Ponte M, Chaouch A, Kobylecki C

Movement disorders clinical practice 2022; (9(6)):816-820 doi:10.1002/mdc3.13473.

Perry Syndrome with a Novel Mutation and a Rare Presentation: First Report from India.

Krishnan P, Sarma GRK, Murgod U, et al.

Annals of Indian Academy of Neurology 2022; (25(4)):703-706 doi:10.4103/aian.aian_890_21.

A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up.

Pan X, Hong Q, Lu X, et al.

Behavioural brain research 2023; (441()):114284 doi:10.1016/j.bbr.2023.114284.

Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities.

Yu J, Yang X, Zheng J, et al.

NPJ Parkinson's disease 2023; (9(1)):35 doi:10.1038/s41531-023-00478-0.

Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.

Dulski J, Koga S, Prudencio M, et al.

Parkinsonism & related disorders 2023; (112()):105481 doi:10.1016/j.parkreldis.2023.105481.

Perry Disease: Bench to Bedside Circulation and a Team Approach.

Mishima T, Yuasa-Kawada J, Fujioka S, Tsuboi Y

Biomedicines 2024; (12(1)) doi:10.3390/biomedicines12010113.

Diagnosis and Management of Acute Respiratory Failure.

Lagina M, Valley TS

Critical care clinics 2024; (40(2)):235-253 doi:10.1016/j.ccc.2024.01.002.

First family with Perry syndrome from Mexico.

Flores-Lagunes L, Del Pozo-Yauner L, Carrillo-Sánchez K, et al.

Biomedical reports 2024; (21(2)):120 doi:10.3892/br.2024.1808.

Hypercapnia is not excluded by normoxia in neuromuscular disease patients: implications for oximetry.

Gray E, Menadue C, Piper A, et al.

ERJ open research 2024; (10(4)) doi:10.1183/23120541.00927-2023.

TDP-43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP-43 Proteinopathies.

Pickles SR, Gonzalez Bejarano J, Narayan A, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(4)):662-671 doi:10.1002/mds.30104.

[Two cases of Perry disease (Perry syndrome) in the same family with normal 123I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy].

Take Y, Saigo R, Arata H, et al.

Rinsho shinkeigaku = Clinical neurology 2025; (65(2)):115-119 doi:10.5692/clinicalneurol.cn-001995.

Current advances in the clinical management of Perry syndrome: is there hope for the future?

Chmiela T, Wszolek ZK

Expert review of neurotherapeutics 2026; (26(2)):165-173 doi:10.1080/14737175.2025.2602031.

Multifactorial anticholinergic toxicity-like presentation and malignant parkinsonism in Perry syndrome.

Takezaki Y, Iriki Y, Madokoro Y, et al.

Parkinsonism & related disorders 2026; (146()):108287 doi:10.1016/j.parkreldis.2026.108287.