Literature DB >> 35662127

A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Philippe A Salles1,2, James Liao1, Umar Shuaib1, Ignacio F Mata3, Hubert H Fernandez1.   

Abstract

Parkinson's disease (PD) is in some cases predisposed-or-caused by genetic variants, contributing to the expression of different phenotypes. Regardless of etiology, as the disease progresses, motor fluctuations and/or levodopa-induced dyskinesias limit the benefit of pharmacotherapy. Device-aided therapies are good alternatives in advanced disease, including deep brain stimulation (DBS), levodopa-carbidopa intestinal gel, and continuous subcutaneous infusion of apomorphine. Candidate selection and timing are critical for the success of such therapies. Genetic screening in DBS cohorts has shown a higher proportion of mutation carriers than in general cohorts, suggesting that genetic factors may influence candidacy for advanced therapies. The response of monogenic PD to device therapies is not well established, and the contribution of genetic information to decision-making is still a matter of debate. The limited evidence regarding gene-dependent response to device-aided therapies is reviewed here. An accurate understanding of the adequacy and responses of different mutation carriers to device-aided therapies requires the development of specific studies with long-term monitoring.

Entities:  

Keywords:  Parkinson’s disease; apomorphine; deep brain stimulation; genetic disorders; infusion pumps; levodopa; parkinsonian disorders

Mesh:

Substances:

Year:  2022        PMID: 35662127      PMCID: PMC9535575          DOI: 10.3233/JPD-212986

Source DB:  PubMed          Journal:  J Parkinsons Dis        ISSN: 1877-7171            Impact factor:   5.520


  132 in total

1.  Persistent adverse effects following different targets and periods after bilateral deep brain stimulation in patients with Parkinson's disease.

Authors:  Zixiao Yin; Yuan Cao; Suyue Zheng; Jian Duan; Dongwei Zhou; Renxu Xu; Tao Hong; Guohui Lu
Journal:  J Neurol Sci       Date:  2018-08-18       Impact factor: 3.181

2.  PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.

Authors:  Chin-Song Lu; Szu-Chia Lai; Ruey-Meei Wu; Yi-Hsin Weng; Chia-Ling Huang; Rou-Shayn Chen; Hsiu-Chen Chang; Yah-Huei Wu-Chou; Tu-Hsueh Yeh
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-12-27       Impact factor: 3.568

3.  Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers.

Authors:  Gian Pal; Graziella Mangone; Emily J Hill; Bichun Ouyang; Yuanqing Liu; Vanessa Lythe; Debra Ehrlich; Rachel Saunders-Pullman; Vicki Shanker; Susan Bressman; Roy N Alcalay; Priscilla Garcia; Karen S Marder; Jan Aasly; M Maral Mouradian; Samantha Link; Marc Rosenbaum; Sharlet Anderson; Bryan Bernard; Robert Wilson; Glenn Stebbins; William C Nichols; Marie-Laure Welter; Sepehr Sani; Mitra Afshari; Leo Verhagen; Rob M A de Bie; Tom Foltynie; Deborah Hall; Jean-Christophe Corvol; Christopher G Goetz
Journal:  Ann Neurol       Date:  2022-01-25       Impact factor: 11.274

4.  Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.

Authors:  Joanne Trinh; Florentine M J Zeldenrust; Jana Huang; Meike Kasten; Susen Schaake; Sonja Petkovic; Harutyun Madoev; Anne Grünewald; Shahad Almuammar; Inke R König; Christina M Lill; Katja Lohmann; Christine Klein; Connie Marras
Journal:  Mov Disord       Date:  2018-10-24       Impact factor: 10.338

Review 5.  FBXO7 mutations in Parkinson's disease and multiple system atrophy.

Authors:  Silvio Conedera; Hulya Apaydin; Yuanzhe Li; Hiroyo Yoshino; Aya Ikeda; Takashi Matsushima; Manabu Funayama; Kenya Nishioka; Nobutaka Hattori
Journal:  Neurobiol Aging       Date:  2016-01-14       Impact factor: 4.673

6.  Cognitive impairment and dementia in Parkinson's disease: clinical features, diagnosis, and management.

Authors:  Joana Meireles; João Massano
Journal:  Front Neurol       Date:  2012-05-25       Impact factor: 4.003

Review 7.  Medications, Deep Brain Stimulation, and Other Factors Influencing Impulse Control Disorders in Parkinson's Disease.

Authors:  Robert S Eisinger; Adolfo Ramirez-Zamora; Samuel Carbunaru; Brandon Ptak; Zhongxing Peng-Chen; Michael S Okun; Aysegul Gunduz
Journal:  Front Neurol       Date:  2019-02-26       Impact factor: 4.003

Review 8.  Current Practices for Outpatient Initiation of Levodopa-Carbidopa Intestinal Gel for Management of Advanced Parkinson's Disease in the United States.

Authors:  Fahd Amjad; Danish Bhatti; Thomas L Davis; Odinachi Oguh; Rajesh Pahwa; Pavnit Kukreja; Jorge Zamudio; Leonard Verhagen Metman
Journal:  Adv Ther       Date:  2019-07-05       Impact factor: 3.845

9.  Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Authors:  Suzanne Lesage; Valérie Drouet; Elisa Majounie; Vincent Deramecourt; Maxime Jacoupy; Aude Nicolas; Florence Cormier-Dequaire; Sidi Mohamed Hassoun; Claire Pujol; Sorana Ciura; Zoi Erpapazoglou; Tatiana Usenko; Claude-Alain Maurage; Mourad Sahbatou; Stefan Liebau; Jinhui Ding; Basar Bilgic; Murat Emre; Nihan Erginel-Unaltuna; Gamze Guven; François Tison; Christine Tranchant; Marie Vidailhet; Jean-Christophe Corvol; Paul Krack; Anne-Louise Leutenegger; Michael A Nalls; Dena G Hernandez; Peter Heutink; J Raphael Gibbs; John Hardy; Nicholas W Wood; Thomas Gasser; Alexandra Durr; Jean-François Deleuze; Meriem Tazir; Alain Destée; Ebba Lohmann; Edor Kabashi; Andrew Singleton; Olga Corti; Alexis Brice
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

10.  Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

Authors:  Naheed L Khan; Shushant Jain; John M Lynch; Nicola Pavese; Patrick Abou-Sleiman; Janice L Holton; Daniel G Healy; William P Gilks; Mary G Sweeney; Milan Ganguly; Vaneesha Gibbons; Sonia Gandhi; Jenny Vaughan; Louise H Eunson; Regina Katzenschlager; Juliet Gayton; Graham Lennox; Tamas Revesz; David Nicholl; Kailash P Bhatia; Niall Quinn; David Brooks; Andrew J Lees; Mary B Davis; Paola Piccini; Andrew B Singleton; Nicholas W Wood
Journal:  Brain       Date:  2005-11-04       Impact factor: 13.501

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