Literature DB >> 27242656

A Personalized Approach to Parkinson's Disease Patients Based on Founder Mutation Analysis.

Nir Giladi1, Anat Mirelman1, Avner Thaler1, Avi Orr-Urtreger2.   

Abstract

While the phenotype of Parkinson disease (PD) is heterogeneous, treatment approaches are mostly uniform. Personalized medicine aims to treat diseases with targeted therapies based on cumulative variables, including genotype. We believe that sufficient evidence has accumulated to warrant the initiation of personalized medicine in PD based on subjects genotype and provide examples for our reasoning from observations of GBA and LRRK2 mutations carriers. While PD patients who carry the G2019S mutation in the LRRK2 gene seem to develop relatively mild disease with more frequent postural instability gait disturbance phenotype, carriers of mutations in the GBA gene tend to have an early onset, rapidly deteriorating disease, with more pronounced cognitive and autonomic impairments. These characteristics have significant implications for treatment and outcome and should be addressed from an early stage in the attempt to improve the patient's quality of life.

Entities:  

Keywords:  GBA; LRRK2; Parkinson’s disease; personalized medicine; phenotype

Year:  2016        PMID: 27242656      PMCID: PMC4861838          DOI: 10.3389/fneur.2016.00071

Source DB:  PubMed          Journal:  Front Neurol        ISSN: 1664-2295            Impact factor:   4.003


  58 in total

Review 1.  Emerging therapies for Parkinson's disease.

Authors:  Werner Poewe; Philipp Mahlknecht; Joseph Jankovic
Journal:  Curr Opin Neurol       Date:  2012-08       Impact factor: 5.710

2.  Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease.

Authors:  Tomoko Oeda; Atsushi Umemura; Yuko Mori; Satoshi Tomita; Masayuki Kohsaka; Kwiyoung Park; Kimiko Inoue; Harutoshi Fujimura; Hiroshi Hasegawa; Hiroshi Sugiyama; Hideyuki Sawada
Journal:  Neurobiol Aging       Date:  2015-09-07       Impact factor: 4.673

Review 3.  Pharmacological treatment of Parkinson disease: a review.

Authors:  Barbara S Connolly; Anthony E Lang
Journal:  JAMA       Date:  2014 Apr 23-30       Impact factor: 56.272

4.  Functional decline in Parkinson disease.

Authors:  J Jankovic; A S Kapadia
Journal:  Arch Neurol       Date:  2001-10

Review 5.  Freezing of gait: a practical approach to management.

Authors:  Jorik Nonnekes; Anke H Snijders; John G Nutt; Günter Deuschl; Nir Giladi; Bastiaan R Bloem
Journal:  Lancet Neurol       Date:  2015-05-24       Impact factor: 44.182

6.  Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers.

Authors:  C Marras; B Schüle; B Schuele; R P Munhoz; E Rogaeva; J W Langston; M Kasten; C Meaney; C Klein; P M Wadia; S-Y Lim; R S-I Chuang; C Zadikof; T Steeves; K M Prakash; R M A de Bie; G Adeli; T Thomsen; K K Johansen; H A Teive; A Asante; W Reginold; A E Lang
Journal:  Neurology       Date:  2011-07-13       Impact factor: 9.910

7.  GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

Authors:  Ziv Gan-Or; Anat Mirelman; Ronald B Postuma; Isabelle Arnulf; Anat Bar-Shira; Yves Dauvilliers; Alex Desautels; Jean-François Gagnon; Claire S Leblond; Birgit Frauscher; Roy N Alcalay; Rachel Saunders-Pullman; Susan B Bressman; Karen Marder; Christelle Monaca; Birgit Högl; Avi Orr-Urtreger; Patrick A Dion; Jacques Y Montplaisir; Nir Giladi; Guy A Rouleau
Journal:  Ann Clin Transl Neurol       Date:  2015-07-31       Impact factor: 4.511

8.  Can the disease course in Parkinson's disease be slowed?

Authors:  Amos D Korczyn; Sharon Hassin-Baer
Journal:  BMC Med       Date:  2015-12-10       Impact factor: 8.775

9.  Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.

Authors:  Aikaterina Angeli; Niccolo E Mencacci; Raquel Duran; Iciar Aviles-Olmos; Zinovia Kefalopoulou; Joseph Candelario; Sarah Rusbridge; Jennifer Foley; Priyanka Pradhan; Marjan Jahanshahi; Ludvic Zrinzo; Marwan Hariz; Nicholas W Wood; John Hardy; Patricia Limousin; Tom Foltynie
Journal:  Mov Disord       Date:  2013-07-01       Impact factor: 10.338

10.  Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Authors:  Jose Bras; Rita Guerreiro; Lee Darwent; Laura Parkkinen; Olaf Ansorge; Valentina Escott-Price; Dena G Hernandez; Michael A Nalls; Lorraine N Clark; Lawrence S Honig; Karen Marder; Wiesje M Van Der Flier; Afina Lemstra; Philip Scheltens; Ekaterina Rogaeva; Peter St George-Hyslop; Elisabet Londos; Henrik Zetterberg; Sara Ortega-Cubero; Pau Pastor; Tanis J Ferman; Neill R Graff-Radford; Owen A Ross; Imelda Barber; Anne Braae; Kristelle Brown; Kevin Morgan; Walter Maetzler; Daniela Berg; Claire Troakes; Safa Al-Sarraj; Tammaryn Lashley; Yaroslau Compta; Tamas Revesz; Andrew Lees; Nigel Cairns; Glenda M Halliday; David Mann; Stuart Pickering-Brown; Dennis W Dickson; Andrew Singleton; John Hardy
Journal:  Hum Mol Genet       Date:  2014-06-27       Impact factor: 6.150

View more
  12 in total

Review 1.  GBA-Associated Parkinson's Disease and Other Synucleinopathies.

Authors:  Ziv Gan-Or; Christopher Liong; Roy N Alcalay
Journal:  Curr Neurol Neurosci Rep       Date:  2018-06-08       Impact factor: 5.081

2.  Motor subtype changes in early Parkinson's disease.

Authors:  Robert S Eisinger; Christopher W Hess; Daniel Martinez-Ramirez; Leonardo Almeida; Kelly D Foote; Michael S Okun; Aysegul Gunduz
Journal:  Parkinsonism Relat Disord       Date:  2017-07-21       Impact factor: 4.891

Review 3.  Dyskinesias and levodopa therapy: why wait?

Authors:  Michele Matarazzo; Alexandra Perez-Soriano; A Jon Stoessl
Journal:  J Neural Transm (Vienna)       Date:  2018-02-10       Impact factor: 3.575

4.  Parkinson's disease motor subtype changes during 20 years of follow-up.

Authors:  Robert S Eisinger; Daniel Martinez-Ramirez; Adolfo Ramirez-Zamora; Christopher W Hess; Leonardo Almeida; Michael S Okun; Aysegul Gunduz
Journal:  Parkinsonism Relat Disord       Date:  2019-05-19       Impact factor: 4.891

5.  Progression in the LRRK2-Asssociated Parkinson Disease Population.

Authors:  Rachel Saunders-Pullman; Anat Mirelman; Roy N Alcalay; Cuiling Wang; Roberto A Ortega; Deborah Raymond; Helen Mejia-Santana; Martha Orbe-Reilly; Brooke A Johannes; Avner Thaler; Laurie Ozelius; Avi Orr-Urtreger; Karen S Marder; Nir Giladi; Susan B Bressman
Journal:  JAMA Neurol       Date:  2018-03-01       Impact factor: 18.302

Review 6.  Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review.

Authors:  Lais Machado de Oliveira; Egberto Reis Barbosa; Camila Catherine Aquino; Renato Puppi Munhoz; Alfonso Fasano; Rubens Gisbert Cury
Journal:  Mov Disord Clin Pract       Date:  2019-06-19

7.  The Parkinson Care Advocate: Integrating Care Delivery.

Authors:  Leonard L Sokol; Debbie Shapiro; Michael J Young; Adina H Wise; Uri P Hadelsberg; Yakir Kaufman; Alberto J Espay; Aristide Merola
Journal:  Front Neurol       Date:  2017-07-27       Impact factor: 4.003

8.  Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.

Authors:  Diana A Olszewska; Allan McCarthy; Alexandra I Soto-Beasley; Ronald L Walton; Brian Magennis; Russell L McLaughlin; Orla Hardiman; Owen A Ross; Tim Lynch
Journal:  Front Neurol       Date:  2020-06-30       Impact factor: 4.003

9.  Acceptability to patients, carers and clinicians of an mHealth platform for the management of Parkinson's disease (PD_Manager): study protocol for a pilot randomised controlled trial.

Authors:  Angelo Antonini; Giovanni Gentile; Manuela Giglio; Andrea Marcante; Heather Gage; Morro M L Touray; Dimitrios I Fotiadis; Dimitris Gatsios; Spyridon Konitsiotis; Lada Timotijevic; Bernadette Egan; Charo Hodgkins; Roberta Biundo; Clelia Pellicano
Journal:  Trials       Date:  2018-09-14       Impact factor: 2.279

Review 10.  Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.

Authors:  Elisa Menozzi; Anthony H V Schapira
Journal:  Front Neurol       Date:  2021-06-24       Impact factor: 4.003

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.