Literature DB >> 30363913

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Una-Marie Sheerin1, Henry Houlden1, Nicholas W Wood2.   

Abstract

Over the last 16 years, insights in clinical and genetic characteristics of Parkinson's disease (PD) have increased substantially. We summarize the clinical, genetic, and pathological findings of autosomal dominant PD linked to mutations in SNCA, leucine-rich repeat kinase 2, vacuolar protein sorting-35, and eukaryotic translation initiation factor 4 gamma 1 and autosomal recessive PD linked to parkin,PINK1, and DJ-1, as well as autosomal recessive complicated parkinsonian syndromes caused by mutations in ATP13A2,FBXO7,PLA2G6,SYNJ1, and DNAJC6. We also review the advances in high- and low-risk genetic susceptibility factors and present multisystem disorders that may present with parkinsonism as the major clinical feature and provide recommendations for prioritization of genetic testing. Finally, we consider the challenges of future genetic research in PD.

Entities:  

Keywords:  Parkinson's disease; genetics

Year:  2014        PMID: 30363913      PMCID: PMC6183020          DOI: 10.1002/mdc3.12000

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


  176 in total

1.  The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease.

Authors:  C-S Ki; E F Stavrou; N Davanos; W Y Lee; E J Chung; J-Y Kim; A Athanassiadou
Journal:  Clin Genet       Date:  2007-05       Impact factor: 4.438

2.  Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.

Authors:  A J Hughes; S E Daniel; L Kilford; A J Lees
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-03       Impact factor: 10.154

3.  Occurrence of Parkinson's syndrome in type I Gaucher disease.

Authors:  O Neudorfer; N Giladi; D Elstein; A Abrahamov; T Turezkite; E Aghai; A Reches; B Bembi; A Zimran
Journal:  QJM       Date:  1996-09

4.  Expanded clinical phenotype of women with the FMR1 premutation.

Authors:  Sarah M Coffey; Kylee Cook; Nicole Tartaglia; Flora Tassone; Danh V Nguyen; Ruiqin Pan; Hannah E Bronsky; Jennifer Yuhas; Mariya Borodyanskaya; Jim Grigsby; Melanie Doerflinger; Paul J Hagerman; Randi J Hagerman
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

Review 5.  The fragile-X premutation: a maturing perspective.

Authors:  Paul J Hagerman; Randi J Hagerman
Journal:  Am J Hum Genet       Date:  2004-03-29       Impact factor: 11.025

6.  Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

Authors:  N Tayebi; J Walker; B Stubblefield; E Orvisky; M E LaMarca; K Wong; H Rosenbaum; R Schiffmann; B Bembi; E Sidransky
Journal:  Mol Genet Metab       Date:  2003-06       Impact factor: 4.797

7.  Genomewide association study for onset age in Parkinson disease.

Authors:  Jeanne C Latourelle; Nathan Pankratz; Alexandra Dumitriu; Jemma B Wilk; Stefano Goldwurm; Gianni Pezzoli; Claudio B Mariani; Anita L DeStefano; Cheryl Halter; James F Gusella; William C Nichols; Richard H Myers; Tatiana Foroud
Journal:  BMC Med Genet       Date:  2009-09-22       Impact factor: 2.103

8.  Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

Authors:  Nathan Pankratz; Jemma B Wilk; Jeanne C Latourelle; Anita L DeStefano; Cheryl Halter; Elizabeth W Pugh; Kimberly F Doheny; James F Gusella; William C Nichols; Tatiana Foroud; Richard H Myers
Journal:  Hum Genet       Date:  2008-11-06       Impact factor: 4.132

9.  The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.

Authors:  Victoria S Burchell; David E Nelson; Alvaro Sanchez-Martinez; Marta Delgado-Camprubi; Rachael M Ivatt; Joe H Pogson; Suzanne J Randle; Selina Wray; Patrick A Lewis; Henry Houlden; Andrey Y Abramov; John Hardy; Nicholas W Wood; Alexander J Whitworth; Heike Laman; Helene Plun-Favreau
Journal:  Nat Neurosci       Date:  2013-08-11       Impact factor: 24.884

10.  Study of the genetic variability in a Parkinson's Disease gene: EIF4G1.

Authors:  Arianna Tucci; Gavin Charlesworth; Una-Marie Sheerin; Vincent Plagnol; Nicholas W Wood; John Hardy
Journal:  Neurosci Lett       Date:  2012-04-23       Impact factor: 3.046

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  4 in total

1.  Age-related LRRK2 G2019S Mutation Impacts Microglial Dopaminergic Fiber Refinement and Synaptic Pruning Involved in Abnormal Behaviors.

Authors:  Qiuyang Zhang; Xiaojuan Cheng; Wei Wu; Siyu Yang; Hanlin You; Zucheng Ye; Nan Liu; Xiaochun Chen; Xiaodong Pan
Journal:  J Mol Neurosci       Date:  2021-08-19       Impact factor: 3.444

Review 2.  Brain Glucose Hypometabolism and Iron Accumulation in Different Brain Regions in Alzheimer's and Parkinson's Diseases.

Authors:  Indira Y Rao; Leah R Hanson; Julia C Johnson; Michael H Rosenbloom; William H Frey
Journal:  Pharmaceuticals (Basel)       Date:  2022-04-29

Review 3.  Classification of advanced stages of Parkinson's disease: translation into stratified treatments.

Authors:  Rejko Krüger; Jochen Klucken; Daniel Weiss; Lars Tönges; Pierre Kolber; Stefan Unterecker; Michael Lorrain; Horst Baas; Thomas Müller; Peter Riederer
Journal:  J Neural Transm (Vienna)       Date:  2017-03-24       Impact factor: 3.575

4.  Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.

Authors:  Ting Shen; Jing Hu; Yasi Jiang; Shuai Zhao; Caixiu Lin; Xinzhen Yin; Yaping Yan; Jiali Pu; Hsin-Yi Lai; Baorong Zhang
Journal:  Front Neurol       Date:  2019-08-21       Impact factor: 4.003

  4 in total

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