Literature DB >> 18718805

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.

Ebba Lohmann1, Laurence Leclere, Francesca De Anna, Suzanne Lesage, Bruno Dubois, Yves Agid, Alexandra Dürr, Alexis Brice.   

Abstract

We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.

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Year:  2008        PMID： 18718805     DOI： 10.1016/j.parkreldis.2008.06.008

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


  10 in total

1.  Olfactory dysfunction in LRRK2 G2019S mutation carriers.

Authors:  R Saunders-Pullman; K Stanley; C Wang; M San Luciano; V Shanker; A Hunt; L Severt; D Raymond; L J Ozelius; R B Lipton; S B Bressman
Journal:  Neurology       Date:  2011-07-13       Impact factor: 9.910

2.  Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease.

Authors:  Roy N Alcalay; Helen Mejia-Santana; Anat Mirelman; Rachel Saunders-Pullman; Deborah Raymond; Christina Palmese; Elise Caccappolo; Laurie Ozelius; Avi Orr-Urtreger; Lorraine Clark; Nir Giladi; Susan Bressman; Karen Marder
Journal:  Parkinsonism Relat Disord       Date:  2014-11-20       Impact factor: 4.891

3.  Loss of FBXO7 (PARK15) results in reduced proteasome activity and models a parkinsonism-like phenotype in mice.

Authors:  Siv Vingill; David Brockelt; Camille Lancelin; Lars Tatenhorst; Guergana Dontcheva; Christian Preisinger; Nicola Schwedhelm-Domeyer; Sabitha Joseph; Miso Mitkovski; Sandra Goebbels; Klaus-Armin Nave; Jörg B Schulz; Till Marquardt; Paul Lingor; Judith Stegmüller
Journal:  EMBO J       Date:  2016-08-05       Impact factor: 11.598

4.  Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease.

Authors:  Vicki Shanker; Mark Groves; Gary Heiman; Christina Palmese; Rachel Saunders-Pullman; Laurie Ozelius; Deborah Raymond; Susan Bressman
Journal:  Mov Disord       Date:  2011-05-24       Impact factor: 10.338

Review 5.  Olfaction in Parkinson's disease and related disorders.

Authors:  Richard L Doty
Journal:  Neurobiol Dis       Date:  2011-12-20       Impact factor: 5.996

6.  Cognitive profile of LRRK2-related Parkinson's disease.

Authors:  Sindhu Srivatsal; Brenna Cholerton; James B Leverenz; Zbigniew K Wszolek; Ryan J Uitti; Dennis W Dickson; Daniel Weintraub; John Q Trojanowski; Vivianna M Van Deerlin; Joseph F Quinn; Kathryn A Chung; Amie L Peterson; Stewart A Factor; Cathy Wood-Siverio; Jennifer G Goldman; Glenn T Stebbins; Bryan Bernard; Beate Ritz; Rebecca Rausch; Alberto J Espay; Fredy J Revilla; Johnna Devoto; Liana S Rosenthal; Ted M Dawson; Marilyn S Albert; Ignacio F Mata; Shu-Ching Hu; Kathleen S Montine; Catherine Johnson; Thomas J Montine; Karen L Edwards; Jing Zhang; Cyrus P Zabetian
Journal:  Mov Disord       Date:  2015-02-04       Impact factor: 10.338

7.  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

8.  Exhaustion of mitochondrial and autophagic reserve may contribute to the development of LRRK2 G2019S -Parkinson's disease.

Authors:  Diana Luz Juárez-Flores; Ingrid González-Casacuberta; Mario Ezquerra; María Bañó; Francesc Carmona-Pontaque; Marc Catalán-García; Mariona Guitart-Mampel; Juan José Rivero; Ester Tobias; Jose Cesar Milisenda; Eduard Tolosa; Maria Jose Marti; Ruben Fernández-Santiago; Francesc Cardellach; Constanza Morén; Glòria Garrabou
Journal:  J Transl Med       Date:  2018-06-08       Impact factor: 5.531

Review 9.  Olfactory Dysfunction in Familial and Sporadic Parkinson's Disease.

Authors:  Bruce A Chase; Katerina Markopoulou
Journal:  Front Neurol       Date:  2020-05-29       Impact factor: 4.003

Review 10.  Profiling Non-motor Symptoms in Monogenic Parkinson's Disease.

Authors:  Xinyao Liu; Weidong Le
Journal:  Front Aging Neurosci       Date:  2020-10-30       Impact factor: 5.750
  10 in total

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