Literature DB >> 17230458

G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.

Laurie J Ozelius1, Tatiana Foroud, Susanne May, Geetha Senthil, Paola Sandroni, Phillip A Low, Stephen Reich, Amy Colcher, Matthew B Stern, William G Ondo, Joseph Jankovic, Neng Huang, Caroline M Tanner, Peter Novak, Sid Gilman, Frederick J Marshall, G Frederick Wooten, Thomas C Chelimsky, Clifford W Shults.   

Abstract

Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in approximately 1% of sporadic cases of Parkinsonism. In a well-characterized cohort of 136 subjects with probable MSA and 110 neurologically evaluated control subjects, none carried the G2019S mutation. We conclude that the G2019S mutation in the LRRK2 gene is unlikely to be associated with MSA. (c) 2006 Movement Disorder Society.

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Year:  2007        PMID: 17230458     DOI: 10.1002/mds.21343

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  8 in total

1.  Clinical and pathological characteristics of LRRK2 G2019S patients with PD.

Authors:  Markos Poulopoulos; Etty Cortes; Jean-Paul G Vonsattel; Stanley Fahn; Cheryl Waters; Lucien J Cote; Carol Moskowitz; Lawrence S Honig; Lorraine N Clark; Karen S Marder; Roy N Alcalay
Journal:  J Mol Neurosci       Date:  2011-12-23       Impact factor: 3.444

2.  Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation.

Authors:  Giulietta Maria Riboldi; Jose-Alberto Palma; Etty Cortes; Megan A Iida; Tamjeed Sikder; Brooklyn Henderson; Towfique Raj; Ruth H Walker; John F Crary; Horacio Kaufmann; Steven Frucht
Journal:  Mov Disord       Date:  2019-05-11       Impact factor: 10.338

3.  Genetic players in multiple system atrophy: unfolding the nature of the beast.

Authors:  Sylvia Stemberger; Sonja W Scholz; Andrew B Singleton; Gregor K Wenning
Journal:  Neurobiol Aging       Date:  2011-05-24       Impact factor: 4.673

Review 4.  The role of the LRRK2 gene in Parkinsonism.

Authors:  Jie-Qiong Li; Lan Tan; Jin-Tai Yu
Journal:  Mol Neurodegener       Date:  2014-11-12       Impact factor: 14.195

Review 5.  Multiple system atrophy: genetic or epigenetic?

Authors:  Edith Sturm; Nadia Stefanova
Journal:  Exp Neurobiol       Date:  2014-12-12       Impact factor: 3.261

Review 6.  Cross-examining candidate genes implicated in multiple system atrophy.

Authors:  Jared S Katzeff; Katherine Phan; Sivaraman Purushothuman; Glenda M Halliday; Woojin Scott Kim
Journal:  Acta Neuropathol Commun       Date:  2019-07-24       Impact factor: 7.801

Review 7.  Multiple system atrophy: the application of genetics in understanding etiology.

Authors:  Monica Federoff; Lucia V Schottlaender; Henry Houlden; Andrew Singleton
Journal:  Clin Auton Res       Date:  2015-02-17       Impact factor: 4.435

8.  The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy.

Authors:  Jin-Whan Cho; Sung-Yeon Kim; Sung-Sup Park; Beom S Jeon
Journal:  J Clin Neurol       Date:  2009-03-31       Impact factor: 3.077

  8 in total

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