Research & Literature

A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics.

Cornejo-Olivas MR, Torres L, Mata IF, et al.

Parkinsonism & related disorders 2015; (21(5)):444-8.

Mechanism of phospho-ubiquitin-induced PARKIN activation.

Wauer T, Simicek M, Schubert A, Komander D

Nature 2015; (524(7565)):370-4 doi:10.1038/nature14879.

Early-onset vs. Late-onset Parkinson's disease: A Clinical-pathological Study.

Ferguson LW, Rajput AH, Rajput A

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2016; (43(1)):113-9 doi:10.1017/cjn.2015.244.

Collective physician perspectives on non-oral medication approaches for the management of clinically relevant unresolved issues in Parkinson's disease: Consensus from an international survey and discussion program.

Odin P, Ray Chaudhuri K, Slevin JT, et al.

Parkinsonism & related disorders 2015; (21(10)):1133-44.

Exon dosage analysis of parkin gene in Chinese sporadic Parkinson's disease.

Guo JF, Dong XL, Xu Q, et al.

Neuroscience letters 2015; (604()):47-51.

Argentine tango in Parkinson disease--a systematic review and meta-analysis.

Lötzke D, Ostermann T, Büssing A

BMC neurology 2015; (15()):226 doi:10.1186/s12883-015-0484-0.

GPi vs STN deep brain stimulation for Parkinson disease: Three-year follow-up.

Odekerken VJ, Boel JA, Schmand BA, et al.

Neurology 2016; (86(8)):755-61 doi:10.1212/WNL.0000000000002401.

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.

Chen H, Huang X, Yuan L, et al.

Neuroscience letters 2016; (624()):100-4.

Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation.

Potulska-Chromik A, Hoffman-Zacharska D, Łukawska M, Kostera-Pruszczyk A

Neurologia i neurochirurgia polska 2017; (51(1)):1-6 doi:10.1016/j.pjnns.2016.07.013.

Switching L-dopa Therapy from Pulsatile to Pulse Administration Reduces Motor Complications in Parkinson's Disease.

Mostile G, Nicoletti A, Dibilio V, et al.

Clinical neuropharmacology 2017; (40(1)):6-10 doi:10.1097/WNF.0000000000000186.

Practical approaches to commencing device-assisted therapies for Parkinson disease in Australia.

Williams DR, Evans AH, Fung VSC, et al.

Internal medicine journal 2017; (47(10)):1107-1113 doi:10.1111/imj.13398.

The PRIAMO study: urinary dysfunction as a marker of disease progression in early Parkinson's disease.

Picillo M, Palladino R, Barone P, et al.

European journal of neurology 2017; (24(6)):788-795 doi:10.1111/ene.13290.

Evidence that phosphorylated ubiquitin signaling is involved in the etiology of Parkinson's disease.

Shiba-Fukushima K, Ishikawa KI, Inoshita T, et al.

Human molecular genetics 2017; (26(16)):3172-3185 doi:10.1093/hmg/ddx201.

Impulse Control and Related Disorders in Parkinson's Disease.

Weintraub D, Claassen DO

International review of neurobiology 2017; (133()):679-717 doi:10.1016/bs.irn.2017.04.006.

Long-term effects of exercise and physical therapy in people with Parkinson disease.

Mak MK, Wong-Yu IS, Shen X, Chung CL

Nature reviews. Neurology 2017; (13(11)):689-703 doi:10.1038/nrneurol.2017.128.

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF, Gladkova C, Pardon E, et al.

Nature 2017; (552(7683)):51-56 doi:10.1038/nature24645.

Autonomic dysfunction in Parkinson's disease: A prospective cohort study.

Merola A, Romagnolo A, Rosso M, et al.

Movement disorders : official journal of the Movement Disorder Society 2018; (33(3)):391-397 doi:10.1002/mds.27268.

Mitochondrial targeted HSP90 inhibitor Gamitrinib-TPP (G-TPP) induces PINK1/Parkin-dependent mitophagy.

Fiesel FC, James ED, Hudec R, Springer W

Oncotarget 2017; (8(63)):106233-106248 doi:10.18632/oncotarget.22287.

Vulnerable Parkin Loss-of-Function Drosophila Dopaminergic Neurons Have Advanced Mitochondrial Aging, Mitochondrial Network Loss and Transiently Reduced Autophagosome Recruitment.

Cackovic J, Gutierrez-Luke S, Call GB, et al.

Frontiers in cellular neuroscience 2018; (12()):39 doi:10.3389/fncel.2018.00039.

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on Subthalamic Nucleus and Globus Pallidus Internus Deep Brain Stimulation for the Treatment of Patients With Parkinson's Disease: Executive Summary.

Rughani A, Schwalb JM, Sidiropoulos C, et al.

Neurosurgery 2018; (82(6)):753-756 doi:10.1093/neuros/nyy037.

International Parkinson and movement disorder society evidence-based medicine review: Update on treatments for the motor symptoms of Parkinson's disease.

Fox SH, Katzenschlager R, Lim SY, et al.

Movement disorders : official journal of the Movement Disorder Society 2018; (33(8)):1248-1266 doi:10.1002/mds.27372.

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M, Hartmann C, Hampf J, et al.

Movement disorders : official journal of the Movement Disorder Society 2018; (33(5)):730-741 doi:10.1002/mds.27352.

Association between White Matter Lesions and Non-Motor Symptoms in Parkinson Disease.

Lee JY, Kim JS, Jang W, et al.

Neuro-degenerative diseases 2018; (18(2-3)):127-132 doi:10.1159/000489311.

Introduction to Parkinson disease (PD) and its complications.

Marvanova M

The mental health clinician 2016; (6(5)):229-235 doi:10.9740/mhc.2016.09.229.

Mechanism of parkin activation by PINK1.

Gladkova C, Maslen SL, Skehel JM, Komander D

Nature 2018; (559(7714)):410-414 doi:10.1038/s41586-018-0224-x.

Apomorphine and levodopa infusion for motor fluctuations and dyskinesia in advanced Parkinson disease.

Antonini A, Nitu B

Journal of neural transmission (Vienna, Austria : 1996) 2018; (125(8)):1131-1135 doi:10.1007/s00702-018-1906-0.

Parkin and PINK1 mitigate STING-induced inflammation.

Sliter DA, Martinez J, Hao L, et al.

Nature 2018; (561(7722)):258-262 doi:10.1038/s41586-018-0448-9.

Levodopa-induced dyskinesia in Parkinson disease: Current and evolving concepts.

Espay AJ, Morgante F, Merola A, et al.

Annals of neurology 2018; (84(6)):797-811 doi:10.1002/ana.25364.

Early predictors of mortality in parkinsonism and Parkinson disease: A population-based study.

Bäckström D, Granåsen G, Domellöf ME, et al.

Neurology 2018; (91(22)):e2045-e2056 doi:10.1212/WNL.0000000000006576.

Prenatal genetic testing and treatment for congenital adrenal hyperplasia.

Simpson JL, Rechitsky S

Fertility and sterility 2019; (111(1)):21-23 doi:10.1016/j.fertnstert.2018.11.041.

Diagnostic delay in Parkinson's disease caused by PRKN mutations.

Ruiz-Lopez M, Freitas ME, Oliveira LM, et al.

Parkinsonism & related disorders 2019; (63()):217-220 doi:10.1016/j.parkreldis.2019.01.010.

Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.

Artusi CA, Dwivedi AK, Romagnolo A, et al.

JAMA network open 2019; (2(2)):e187800 doi:10.1001/jamanetworkopen.2018.7800.

Impulse control disorders in Parkinson disease: A cross-sectional study in Morocco.

El Otmani H, Mouni FZ, Abdulhakeem Z, et al.

Revue neurologique 2019; (175(4)):233-237 doi:10.1016/j.neurol.2018.07.009.

Inpatient Enhanced Multidisciplinary Care Effects on the Quality of Life for Parkinson Disease: A Quasi-Randomized Controlled Trial.

Marumoto K, Yokoyama K, Inoue T, et al.

Journal of geriatric psychiatry and neurology 2019; (32(4)):186-194 doi:10.1177/0891988719841721.

Mechanisms of PINK1, ubiquitin and Parkin interactions in mitochondrial quality control and beyond.

Bayne AN, Trempe JF

Cellular and molecular life sciences : CMLS 2019; (76(23)):4589-4611 doi:10.1007/s00018-019-03203-4.

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX, Malek N, Lawton MA, et al.

Brain : a journal of neurology 2019; (142(9)):2828-2844 doi:10.1093/brain/awz191.

Functional outcomes of an integrated Parkinson's Disease Wellbeing Program.

Horne JT, Soh D, Cordato DJ, et al.

Australasian journal on ageing 2020; (39(1)):e94-e102 doi:10.1111/ajag.12705.

Effect of simplified Tai Chi exercise on relieving symptoms of patients with mild to moderate Parkinson's disease.

Zhu M, Zhang Y, Pan J, et al.

The Journal of sports medicine and physical fitness 2020; (60(2)):282-288 doi:10.23736/S0022-4707.19.10104-1.

Hallucinations, Delusions and Impulse Control Disorders in Parkinson Disease.

Lizarraga KJ, Fox SH, Strafella AP, Lang AE

Clinics in geriatric medicine 2020; (36(1)):105-118 doi:10.1016/j.cger.2019.09.004.

The Phenotypic Variation of a Parkin-Related Parkinson's Disease Family and the Role of Heterozygosity.

Stark RS, Walch J, Kägi G

Movement disorders clinical practice 2019; (6(8)):700-703 doi:10.1002/mdc3.12826.

miR-218 Inhibits Mitochondrial Clearance by Targeting PRKN E3 Ubiquitin Ligase.

Di Rita A, Maiorino T, Bruqi K, et al.

International journal of molecular sciences 2020; (21(1)) doi:10.3390/ijms21010355.

Patterns of striatal dopamine depletion in early Parkinson disease: Prognostic relevance.

Chung SJ, Lee HS, Yoo HS, et al.

Neurology 2020; (95(3)):e280-e290 doi:10.1212/WNL.0000000000009878.

Young Onset Parkinson's Disease: A Modern and Tailored Approach.

Post B, van den Heuvel L, van Prooije T, et al.

Journal of Parkinson's disease 2020; (10(s1)):S29-S36 doi:10.3233/JPD-202135.

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations.

Mangone G, Bekadar S, Cormier-Dequaire F, et al.

Parkinsonism & related disorders 2020; (76()):56-62 doi:10.1016/j.parkreldis.2020.04.002.

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S, Lunati A, Houot M, et al.

Annals of neurology 2020; (88(4)):843-850 doi:10.1002/ana.25787.

Quality of Life in Newly Diagnosed Patients With Parkin-Related Parkinson's Disease.

Zhou XY, Liu FT, Chen C, et al.

Frontiers in neurology 2020; (11()):580910 doi:10.3389/fneur.2020.580910.

Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.

Capalbo A, Fabiani M, Caroselli S, et al.

Human reproduction (Oxford, England) 2021; (36(7)):2050-2061 doi:10.1093/humrep/deab087.

An Update on Medical and Surgical Treatments of Parkinson's Disease.

Nemade D, Subramanian T, Shivkumar V

Aging and disease 2021; (12(4)):1021-1035 doi:10.14336/AD.2020.1225.

Pregnancy in Parkinson's disease with PARK2 mutations.

Sazci A, Idrisoglu HA

Clinical parkinsonism & related disorders 2019; (1()):52-53 doi:10.1016/j.prdoa.2019.08.003.

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G, Regoni M, Cazzaniga F, et al.

Biomedicines 2021; (9(7)) doi:10.3390/biomedicines9070812.

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing.

Mor-Shaked H, Paz-Ebstein E, Basal A, et al.

Brain communications 2021; (3(3)):fcab197 doi:10.1093/braincomms/fcab197.

Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience.

Chaperon JL, Wemmer NM, McKanna TA, et al.

American journal of nephrology 2021; (52(8)):684-690 doi:10.1159/000518253.

Dopaminergic Therapy for Motor Symptoms in Early Parkinson Disease Practice Guideline Summary: A Report of the AAN Guideline Subcommittee.

Pringsheim T, Day GS, Smith DB, et al.

Neurology 2021; (97(20)):942-957 doi:10.1212/WNL.0000000000012868.

PARK2 Patient Presenting with Dopa-Responsive Dystonia.

Yoshii F, Aono K, Kumazawa R, Takahashi W

Case reports in neurology 2021; (13(3)):749-754 doi:10.1159/000520436.

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.

Zhu W, Huang X, Yoon E, et al.

Brain : a journal of neurology 2022; (145(6)):2077-2091 doi:10.1093/brain/awab456.

Multiple system atrophy.

Poewe W, Stankovic I, Halliday G, et al.

Nature reviews. Disease primers 2022; (8(1)):56 doi:10.1038/s41572-022-00382-6.

Diagnosis and Treatment of Cognitive and Neuropsychiatric Symptoms in Parkinson Disease and Dementia With Lewy Bodies.

Weintraub D, Irwin D

Continuum (Minneapolis, Minn.) 2022; (28(5)):1314-1332 doi:10.1212/CON.0000000000001151.

Physical exercise for people with Parkinson's disease: a systematic review and network meta-analysis.

Ernst M, Folkerts AK, Gollan R, et al.

The Cochrane database of systematic reviews 2023; (1()):CD013856 doi:10.1002/14651858.CD013856.pub2.

Parkinson disease primer, part 1: diagnosis.

Frank C, Chiu R, Lee J

Canadian family physician Medecin de famille canadien 2023; (69(1)):20-24 doi:10.46747/cfp.690120.

Differences in Survival across Monogenic Forms of Parkinson's Disease.

Lanore A, Casse F, Tesson C, et al.

Annals of neurology 2023; (94(1)):123-132 doi:10.1002/ana.26636.

Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.

Mutez E, Swiderski M, Devos D, et al.

European journal of neurology 2023; (30(6)):1667-1675 doi:10.1111/ene.15788.

15-Year Subthalamic Deep Brain Stimulation outcome in a Parkinson's disease patient with Parkin gene mutation: a case report.

Covolo A, Imbalzano G, Artusi CA, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(8)):2939-2942 doi:10.1007/s10072-023-06789-7.

Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.

Daida K, Funayama M, Billingsley KJ, et al.

medRxiv : the preprint server for health sciences 2023; doi:10.1101/2023.08.14.23293948.

State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies.

Thompson WS, Babayev SN, McGowan ML, et al.

Journal of the American Society of Nephrology : JASN 2024; (35(2)):235-248 doi:10.1681/ASN.0000000000000253.

Tom20 gates PINK1 activity and mediates its tethering of the TOM and TIM23 translocases upon mitochondrial stress.

Eldeeb MA, Bayne AN, Fallahi A, et al.

Proceedings of the National Academy of Sciences of the United States of America 2024; (121(10)):e2313540121 doi:10.1073/pnas.2313540121.

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Menon PJ, Sambin S, Criniere-Boizet B, et al.

NPJ Parkinson's disease 2024; (10(1)):72 doi:10.1038/s41531-024-00677-3.

[Multidisciplinary Complex Treatment of Parkinson's disease : Cornerstone of an individualized treatment].

Scherbaum R, Tönges L

Der Nervenarzt 2024; (95(8)):704-713 doi:10.1007/s00115-024-01666-w.

PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.

Clausen L, Okarmus J, Voutsinos V, et al.

Cellular and molecular life sciences : CMLS 2024; (81(1)):223 doi:10.1007/s00018-024-05262-8.

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.

Bowman P, Grimes H, Dallosso AR, et al.

Developmental medicine and child neurology 2025; (67(1)):126-131 doi:10.1111/dmcn.15985.

Diagnostics and treatment of impulse control disorders, psychosis and delirium: systemic review-based recommendations - guideline "Parkinson's disease" of the German Society of Neurology.

Witt K, Levin J, van Eimeren T, et al.

Journal of neurology 2024; (271(12)):7402-7421 doi:10.1007/s00415-024-12576-x.

Precision Dopaminergic Treatment in a Cohort of Parkinson's Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review.

Koros C, Simitsi AM, Papagiannakis N, et al.

Neurology international 2024; (16(4)):833-844 doi:10.3390/neurolint16040062.

Clinical outcomes following preimplantation genetic testing for monogenic conditions: a systematic review of observational studies.

Poulton A, Menezes M, Hardy T, et al.

American journal of obstetrics and gynecology 2025; (232(2)):150-163 doi:10.1016/j.ajog.2024.09.114.

The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.

Daida K, Yoshino H, Malik L, et al.

Annals of neurology 2025; (97(4)):753-765 doi:10.1002/ana.27155.

Pediatric-onset PRKN disease: New insights into an understudied population.

Gonul Oner O, Biboulet Bruneau C, Fraix V, et al.

Journal of Parkinson's disease 2024; (14(8)):1631-1641 doi:10.1177/1877718X241296153.

Tai Chi improves balance, mobility and gait function of the lower limbs in patients with Parkinson's disease: a systematic review and meta-analysis.

Lou L, Xiang C, Hu Y, Yang J

European journal of medical research 2025; (30(1)):107 doi:10.1186/s40001-024-02151-5.

Deep brain stimulation surgical timing, outcomes, and prognostic factors in patients with Parkinson's disease: A Chinese retrospective multicenter cohort study.

Wang S, Hu W, Gao Y, et al.

PLoS medicine 2025; (22(8)):e1004670 doi:10.1371/journal.pmed.1004670.

Very High Frequency of Early-Onset Parkinson's Disease and PRKN Mutations among Indigenous Patients in Sabah, Malaysia.

Tay YW, Ooi JCE, Lim SY, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(11)):2407-2418 doi:10.1002/mds.70015.

The genetics of autosomal recessive early-onset Parkinson's disease.

Cogan G, Lesage S, Brice A

Current opinion in neurobiology 2025; (95()):103141 doi:10.1016/j.conb.2025.103141.

Safety and feasibility of implementing gym-based strength training for people with early onset Parkinson's disease: a phase 1 trial.

Harris DM, Thwaites C, Callisaya ML, et al.

Disability and rehabilitation 2026; (48(12)):3760-3771 doi:10.1080/09638288.2025.2595898.

Revisiting the 2015 MDS diagnostic criteria for Parkinson disease: insights from autopsy-confirmed cases.

Fox SH, Luca DG, Postuma RB, et al.

NPJ Parkinson's disease 2025; (11(1)):360 doi:10.1038/s41531-025-01206-6.

An elective two-week interdisciplinary acute rehabilitation program improves functional and speech outcomes in patients with Parkinson's disease.

Markos S, Dibling JP, Petrosyan H, et al.

Frontiers in rehabilitation sciences 2025; (6()):1672759 doi:10.3389/fresc.2025.1672759.

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target.

Hach A, Lohmann K, Funayama M, et al.

Annals of neurology 2026; (99(6)):1379-1393 doi:10.1002/ana.78180.

Long-Term Outcomes of Subthalamic Nucleus and Globus Pallidus Interna Deep Brain Stimulation for Young-Onset Parkinson Disease.

Hey GE, Kamo H, Perez Rodriguez Garcia G, et al.

Neurology. Clinical practice 2026; (16(3)):e200605 doi:10.1212/CPJ.0000000000200605.

Emerging insight in genetics and therapies in young-onset Parkinson's disease (YOPD): a comprehensive review.

Hey G, Kamo H, Perez Rodriguez Garcia G, et al.

Journal of neurology 2026; (273(7)).