Literature DB >> 20971030

Glucocerebrosidase mutations in diffuse Lewy body disease.

Kenya Nishioka1, Owen A Ross, Carles Vilariño-Güell, Stephanie A Cobb, Jennifer M Kachergus, David M A Mann, Julie Snowden, Anna M T Richardson, David Neary, Christopher A Robinson, Alex Rajput, Spiridon Papapetropoulos, Deborah C Mash, Rajesh Pahwa, Kelly E Lyons, Zbigniew K Wszolek, Dennis W Dickson, Matthew J Farrer.   

Abstract

Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.
© 2010. Published by Elsevier Ltd.

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 20971030      PMCID： PMC4721925          DOI： 10.1016/j.parkreldis.2010.09.009

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


  26 in total

1.  Relative frequencies of Alzheimer disease, Lewy body, vascular and frontotemporal dementia, and hippocampal sclerosis in the State of Florida Brain Bank.

Authors:  Warren W Barker; Cheryl A Luis; Alice Kashuba; Mercy Luis; Dylan G Harwood; David Loewenstein; Carol Waters; Pat Jimison; Eugene Shepherd; Steven Sevush; Neil Graff-Radford; Douglas Newland; Murray Todd; Bayard Miller; Michael Gold; Kenneth Heilman; Leilani Doty; Ira Goodman; Bruce Robinson; Gary Pearl; Dennis Dickson; Ranjan Duara
Journal:  Alzheimer Dis Assoc Disord       Date:  2002 Oct-Dec       Impact factor: 2.703

2.  Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

Authors:  O Goker-Alpan; B I Giasson; M J Eblan; J Nguyen; H I Hurtig; V M-Y Lee; J Q Trojanowski; E Sidransky
Journal:  Neurology       Date:  2006-06-21       Impact factor: 9.910

3.  Lrrk2 and Lewy body disease.

Authors:  Owen A Ross; Mathias Toft; Andrew J Whittle; Joseph L Johnson; Spiridon Papapetropoulos; Deborah C Mash; Irene Litvan; Mark F Gordon; Zbigniew K Wszolek; Matthew J Farrer; Dennis W Dickson
Journal:  Ann Neurol       Date:  2006-02       Impact factor: 10.422

Review 4.  Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.

Authors:  B Segarane; A Li; R Paudel; S Scholz; J Neumann; A Lees; T Revesz; J Hardy; C J Mathias; N W Wood; J Holton; H Houlden
Journal:  Neurology       Date:  2009-03-31       Impact factor: 9.910

5.  Validation of the neuropathologic criteria of the third consortium for dementia with Lewy bodies for prospectively diagnosed cases.

Authors:  Hiroshige Fujishiro; Tanis J Ferman; Bradley F Boeve; Glenn E Smith; Neill R Graff-Radford; Ryan J Uitti; Zbigniew K Wszolek; David S Knopman; Ronald C Petersen; Joseph E Parisi; Dennis W Dickson
Journal:  J Neuropathol Exp Neurol       Date:  2008-07       Impact factor: 3.685

6.  Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.

Authors:  Ozlem Goker-Alpan; Barbara K Stubblefield; Benoit I Giasson; Ellen Sidransky
Journal:  Acta Neuropathol       Date:  2010-09-14       Impact factor: 17.088

Review 7.  Gaucher disease: complexity in a "simple" disorder.

Authors:  Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2004 Sep-Oct       Impact factor: 4.797

8.  Association of glucocerebrosidase mutations with dementia with lewy bodies.

Authors:  Lorraine N Clark; Lykourgos A Kartsaklis; Rebecca Wolf Gilbert; Beatriz Dorado; Barbara M Ross; Sergey Kisselev; Miguel Verbitsky; Helen Mejia-Santana; Lucien J Cote; Howard Andrews; Jean-Paul Vonsattel; Stanley Fahn; Richard Mayeux; Lawrence S Honig; Karen Marder
Journal:  Arch Neurol       Date:  2009-05

9.  Immunoreactivity profile of hippocampal CA2/3 neurites in diffuse Lewy body disease.

Authors:  D W Dickson; M L Schmidt; V M Lee; M L Zhao; S H Yen; J Q Trojanowski
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

Review 10.  Multiple system atrophy: a primary oligodendrogliopathy.

Authors:  Gregor K Wenning; Nadia Stefanova; Kurt A Jellinger; Werner Poewe; Michael G Schlossmacher
Journal:  Ann Neurol       Date:  2008-09       Impact factor: 10.422
View more
  23 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.  CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy.

Authors:  S Pablo Sardi; Jennifer Clarke; Cathrine Kinnecom; Thomas J Tamsett; Lingyun Li; Lisa M Stanek; Marco A Passini; Gregory A Grabowski; Michael G Schlossmacher; Richard L Sidman; Seng H Cheng; Lamya S Shihabuddin
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-05       Impact factor: 11.205

3.  Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia.

Authors:  Shinsuke Fujioka; Christina Sundal; Audrey J Strongosky; Monica Case Castanedes; Rosa Rademakers; Owen A Ross; Carles Vilariño-Güell; Matthew J Farrer; Zbigniew K Wszolek; Dennis W Dickson
Journal:  Acta Neuropathol       Date:  2012-11-04       Impact factor: 17.088

Review 4.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Authors:  Susanne A Schneider; Roy N Alcalay
Journal:  Mov Disord       Date:  2017-11       Impact factor: 10.338

Review 5.  The neuropathology of genetic Parkinson's disease.

Authors:  Markos Poulopoulos; Oren A Levy; Roy N Alcalay
Journal:  Mov Disord       Date:  2012-03-26       Impact factor: 10.338

6.  GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.

Authors:  Debby Tsuang; James B Leverenz; Oscar L Lopez; Ronald L Hamilton; David A Bennett; Julie A Schneider; Aron S Buchman; Eric B Larson; Paul K Crane; Jeffrey A Kaye; Patricia Kramer; Randy Woltjer; Walter Kukull; Peter T Nelson; Gregory A Jicha; Janna H Neltner; Doug Galasko; Eliezer Masliah; John Q Trojanowski; Gerard D Schellenberg; Dora Yearout; Haley Huston; Allison Fritts-Penniman; Ignacio F Mata; Jia Y Wan; Karen L Edwards; Thomas J Montine; Cyrus P Zabetian
Journal:  Neurology       Date:  2012-10-03       Impact factor: 9.910

Review 7.  α-Synuclein oligomers and clinical implications for Parkinson disease.

Authors:  Lorraine V Kalia; Suneil K Kalia; Pamela J McLean; Andres M Lozano; Anthony E Lang
Journal:  Ann Neurol       Date:  2012-12-07       Impact factor: 10.422

Review 8.  The link between the GBA gene and parkinsonism.

Authors:  Ellen Sidransky; Grisel Lopez
Journal:  Lancet Neurol       Date:  2012-11       Impact factor: 44.182

Review 9.  Genetic susceptibility variants in parkinsonism.

Authors:  Alexandra I Soto-Ortolaza; Owen A Ross
Journal:  Parkinsonism Relat Disord       Date:  2015-09-07       Impact factor: 4.891

10.  Frequency of GBA variants in autopsy-proven multiple system atrophy.

Authors:  Miriam Sklerov; Un Jung Kang; Christopher Liong; Lorraine Clark; Karen Marder; Michael Pauciulo; William C Nichols; Wendy K Chung; Lawrence S Honig; Etty Cortes; Jean Paul Vonsattel; Roy N Alcalay
Journal:  Mov Disord Clin Pract       Date:  2017-04-03
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.