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Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2

Published on Oct 1, 2014in Parkinsonism & Related Disorders 4.36
· DOI :10.1016/j.parkreldis.2014.07.005
A. Estanga1
Estimated H-index: 1
(UPV/EHU: University of the Basque Country),
Maria C. Rodriguez-Oroz32
Estimated H-index: 32
(Ikerbasque)
+ 6 AuthorsJosé Félix Martí Massó13
Estimated H-index: 13
(UPV/EHU: University of the Basque Country)
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Abstract
Objective: The neuropsychological characteristics of patients with Parkinson's Disease (PD) associated with R1441G mutation in the LRRK2 gene (R1441G-PD) are not well known. The aim of this study was to examine the cognitive status and mood of R1441G-PD patients. Methods: Thirty patients with R1441G-PD were compared with thirty idiopathic PD (i-PD) patients who were matched by age, sex, education, disease onset age and duration, using a comprehensive battery of neuropsychological test, and considering the Movement Disorder Society (MDS) criteria for the diagnosis of Mild Cognitive Impairment (PD-MCI) and dementia (PD-Dementia). Results: The mean scores in the depression and anxiety scales were similar in the two groups. Depressive symptoms were detected in 31.8% of R1441G-PD and 25% of i-PD patients and anxiety symptoms were evident in 4.5% and 15%, respectively, but the differences were not significant. The only neuropsychological test on which there was a significantly worse performance in the R1441G-PD group was the Boston naming test but the difference became not significant when Bonferroni's correction was applied. The prevalence of PD-MCI was 30% in both R1441G-PD and i-PD, with no differences in the number and type of domains altered given that executive function, memory and attention were mainly affected. PDDementia was diagnosed in 13.3% (n ¼ 4) of R1441G-PD and 26.7% (n ¼ 8) of i-PD patients (difference was not significant). Conclusion: In conclusion, significant differences were not detected between R1441G-PD and i-PD in cognitive, depression and anxiety scales, or PD-MCI and PD-Dementia prevalence, and the cognitive profile was identical in the two groups.
  • References (18)
  • Citations (10)
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References18
Newest
Published on May 1, 2013in Movement Disorders 8.06
Connie Marras37
Estimated H-index: 37
(U of T: University of Toronto),
Melissa J. Armstrong15
Estimated H-index: 15
(U of T: University of Toronto)
+ 17 AuthorsCindy Zadikoff20
Estimated H-index: 20
(NU: Northwestern University)
We examined the frequency of Par- kinson disease with mild cognitive impairment (PD-MCI) and its subtypes and the accuracy of 3 cognitive scales for detecting PD-MCI using the new criteria for PD-MCI pro- posed by the Movement Disorders Society. Nondemented patients with Parkinson's disease completed a clinical visit with the 3 screening tests followed 1 to 3 weeks later by neuropsychological testing. Of 139 patients, 46 met Level 2 Task Force criteria for PD-MCI when impaired perform- ance was ...
75 Citations Source Cite
Published on Mar 1, 2012in Movement Disorders 8.06
Irene Litvan77
Estimated H-index: 77
(UCSD: University of California, San Diego),
Jennifer G. Goldman28
Estimated H-index: 28
(Rush University Medical Center)
+ 13 AuthorsCaroline H. Williams-Gray35
Estimated H-index: 35
(University of Cambridge)
In Parkinson’s disease (PD) there is a spectrum of cognitive dysfunction, ranging from mild cognitive impairment (MCI) to PD dementia (PDD). A Movement Disorder Society (MDS) commissioned task force recently evaluated the literature pertaining to mild cognitive impairment in PD (PD-MCI), and determined that MCI is common in nondemented PD patients and is associated with increasing age, disease duration, and disease severity.1 Moreover, PD-MCI predicts the development of dementia, which can occur...
854 Citations Source Cite
Published on Aug 15, 2011in Movement Disorders 8.06
Vicki Shanker8
Estimated H-index: 8
(Beth Israel Medical Center),
Mark Groves7
Estimated H-index: 7
(Beth Israel Medical Center)
+ 5 AuthorsSusan Bressman4
Estimated H-index: 4
(Beth Israel Medical Center)
INTRODUCTION The behavioral and cognitive features of the leucine-rich repeat kinase G2019S mutation in Parkinson’s disease in the Ashkenazi Jewish population are not well described; therefore we sought to more systematically characterize these features using a semi-structured psychiatric interview and neuropsychological testing.
26 Citations Source Cite
Published on Aug 15, 2011in Movement Disorders 8.06
Irene Litvan77
Estimated H-index: 77
(University of Louisville),
Dag Aarsland88
Estimated H-index: 88
(Stavanger University Hospital)
+ 6 AuthorsDaniel Weintraub61
Estimated H-index: 61
(UPenn: University of Pennsylvania)
Background There is controversy regarding the definition and characteristics of mild cognitive impairment in Parkinson’s disease.
347 Citations Source Cite
Published on Dec 1, 2010in Parkinsonism & Related Disorders 4.36
S. Belarbi7
Estimated H-index: 7
,
Nassima Hecham4
Estimated H-index: 4
+ 10 AuthorsTarik Hamadouche3
Estimated H-index: 3
A series of 106 patients with isolated or familial Parkinsonism underwent clinical evaluation and genetic testing for the LRRK2 G2019S mutation which was identified in 34/106 patients (32%). Seventy one of them accepted to be evaluated for neuropsychological and neuropsychiatric studies with the aim to compare mutation carriers with non-carriers. For neuropsychological testing, comparisons between LRRK2 G2019S carriers and non-carriers were made after stratification according to the level of edu...
40 Citations Source Cite
Published on Sep 21, 2010in Neurology 8.69
D. Aarsland13
Estimated H-index: 13
,
Kolbjørn Brønnick31
Estimated H-index: 31
+ 13 AuthorsLiesl M. Allcock11
Estimated H-index: 11
Background: In studies of mild cognitive impairment (MCI) in Parkinson disease (PD), patients without dementia have reported variable prevalences and profiles of MCI, likely to be due to methodologic differences between the studies. Objective: The objective of this study was to determine frequency and the profile of MCI in a large, multicenter cohort of well-defined patients with PD using a standardized analytic method and a common definition of MCI. Methods: A total of 1,346 patients with PD fr...
409 Citations Source Cite
Published on Jul 1, 2010in Journal of Neurology 4.20
Oliver Riedel12
Estimated H-index: 12
(TUD: Dresden University of Technology),
Jens Klotsche32
Estimated H-index: 32
(TUD: Dresden University of Technology)
+ 10 AuthorsPeter Riederere100
Estimated H-index: 100
Neuropsychiatric symptoms (NPS) of Parkinson’s disease (PD) are of growing diagnostic and therapeutic importance. Data on their prevalence and characteristics have been primarily derived from highly selective clinical populations. We have conducted a national study in the outpatient care sector to provide a fuller characterization of the frequency of dementia, depression, and other NPS in PD outpatients. We also examined associations with biosocial and neurological variables. A nationwide repres...
119 Citations Source Cite
Published on Apr 1, 2009in Neurogenetics 3.02
Ana Gorostidi15
Estimated H-index: 15
,
Javier Ruiz-Martínez19
Estimated H-index: 19
+ 2 AuthorsJ. F. Martí Massó9
Estimated H-index: 9
Mutations in LRRK2 gene are the most frequent cause of Parkinson’s disease (PD) described, but their prevalence varies between populations. Patients, 418, with PD and 138 unrelated controls from the Basque Country were screened for LRRK2 G2019S and R1441G mutations. Of the patients, 3.82% were heterozygous carriers of G2019S and 13.15% of R1441G. G2019S frequency was higher in non-Basque population (6.0%), while R1441G was more common in Basque origin population (22.4%). Our conclusion is that b...
51 Citations Source Cite
Published on Jul 1, 2008in Lancet Neurology 28.75
Daniel G. Healy31
Estimated H-index: 31
(UCL: University College London),
Mario Falchi31
Estimated H-index: 31
(Imperial College London)
+ 22 AuthorsStefano Goldwurm31
Estimated H-index: 31
Summary Background Mutations in LRRK2 , the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2 -associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2 ? Methods Researchers from 21 cen...
762 Citations Source Cite
Published on Jan 30, 2008in Movement Disorders 8.06
Jennifer S.A.M. Reijnders4
Estimated H-index: 4
,
Uwe Ehrt15
Estimated H-index: 15
+ 2 AuthorsAlbert F.G. Leentjens37
Estimated H-index: 37
495 Citations Source Cite
Cited By10
Newest
Published on May 1, 2019in Free Radical Biology and Medicine 5.66
Neelam Sharma (Indian Institute of Chemical Technology), Swetha Pavani Rao1
Estimated H-index: 1
(Indian Institute of Chemical Technology),
Shasi V. Kalivendi17
Estimated H-index: 17
(Indian Institute of Chemical Technology)
Abstract Parkinson's disease (PD) is a progressive neurodegenerative disorder associated with the degeneration of dopamine neurons of the substantia nigra pars compacta (SNpc) and the presence of intra-neuronal aggregates of α-synuclein and its post-translational products. Based on emerging reports on the association between glycated α-synuclein and PD; and the newly identified deglycase activity of DJ-1, we sought to find the relevance of deglycase activity of DJ-1 on glycation of α-synuclein a...
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Published on Sep 19, 2018in Frontiers in Aging Neuroscience 3.63
Li Shu3
Estimated H-index: 3
(CSU: Central South University),
Yuan Zhang6
Estimated H-index: 6
(CSU: Central South University)
+ 4 AuthorsQiying Sun10
Estimated H-index: 10
(CSU: Central South University)
Background: Parkinson’s disease (PD) is one of the most common neurodegenerative diseases. Variants in the LRRK2 gene have been shown to be associated with PD. However, the clinical characteristics of LRRK2-related PD are heterogeneous. In our study, we performed a comprehensive pooled analysis of the association between specific LRRK2 variants and clinical features of PD. Methods: Articles from the Medline, Embase, and Cochrane databases were included in the meta-analysis. Strict inclusion crit...
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Published on Dec 1, 2017in Parkinsonism & Related Disorders 4.36
Anna De Rosa15
Estimated H-index: 15
,
Silvio Peluso6
Estimated H-index: 6
+ 7 AuthorsSabina Pappatà27
Estimated H-index: 27
Abstract Introduction LRRK2 gene mutations underlie the most common mendelian form of Parkinson's Disease (PD), designated PARK8, that shows clinical features similar to those in idiopathic PD (IPD). We assessed the cognitive functions and the cerebral metabolism measured with 18F-fluorodeoxyglucose (FDG)-PET in PARK8 patients compared with IPD. Patients and methods We enrolled eight PARK8 patients and eight IPD patients, comparable for onset age, stage, severity and duration of disease. Mean ag...
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Published on Apr 18, 2017in Frontiers in Cellular Neuroscience 3.90
Stefano Gambardella11
Estimated H-index: 11
,
Rosangela Ferese4
Estimated H-index: 4
+ 7 AuthorsFrancesco Fornai42
Estimated H-index: 42
(UniPi: University of Pisa)
The functional anatomy of the reticular formation (RF) encompasses a constellation of brain regions which are reciprocally connected to sub-serve a variety of functions. Recent evidence indicates that neuronal degeneration within one of these regions spreads synaptically along brainstem circuitries. This is exemplified by the recruitment of various brainstem reticular nuclei in specific Parkinson’s disease (PD) phenotypes, and by retrospective analysis of lethargic post-encephalitic parkinsonism...
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Published on Apr 1, 2017in European Journal of Neurology 4.39
E. S. Fagan1
Estimated H-index: 1
(University of Oslo),
L. Pihlstrøm1
Estimated H-index: 1
(University of Oslo)
Parkinson's disease is a highly heterogeneous disorder, where genetic factors are likely to contribute to clinical variability, including susceptibility to cognitive impairment and dementia. Monogenic forms of parkinsonism show distinct cognitive profiles, yet less is known about the impact of common genetic variants on cognition in sporadic Parkinson's disease. In a systematic review of the literature, the current results from genetic association studies of cognitive outcomes are summarized and...
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Published on Oct 1, 2016in American Journal of Medical Genetics
Ignacio F. Mata29
Estimated H-index: 29
(UW: University of Washington),
Marie Y. Davis7
Estimated H-index: 7
(UW: University of Washington)
+ 8 AuthorsThomas D. Bird88
Estimated H-index: 88
(UW: University of Washington)
Mutations in the LRRK2 gene result in autosomal dominant, late onset Parkinson's disease (PD). Three such mutations (p.R1441C, p.R1441G, and p.R1441H) are known to occur within codon 1441, and haplotype analyses indicate that each one has arisen independently on multiple occasions. We sequenced the entire coding region of 18 casual genes for PD or other parkinsonian neurodegenerative disorders in the proband of a family with autosomal dominant PD. We discovered a new missense mutation in the LRR...
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Published on Mar 1, 2016in Human Molecular Genetics 4.54
Max Sloan1
Estimated H-index: 1
,
Javier Alegre-Abarrategui11
Estimated H-index: 11
+ 14 AuthorsRebecca Wallings1
Estimated H-index: 1
Mutations in leucine-rich repeat kinase 2 (LRRK2) lead to late-onset, autosomal dominant Parkinson's disease, characterized by the degeneration of dopamine neurons of the substantia nigra pars compacta, a deficit in dopamine neurotransmission and the development of motor and non-motor symptoms. The most prevalent Parkinson's disease LRRK2 mutations are located in the kinase (G2019S) and GTPase (R1441C) encoding domains of LRRK2. To better understand the sequence of events that lead to progressiv...
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Published on May 1, 2015in Parkinsonism & Related Disorders 4.36
Johanne Somme13
Estimated H-index: 13
,
Ana Molano Salazar8
Estimated H-index: 8
(UPV/EHU: University of the Basque Country)
+ 6 AuthorsJuan Carlos Gómez-Esteban20
Estimated H-index: 20
(UPV/EHU: University of the Basque Country)
Objective To compare the cognitive and psychiatric status of patients with Parkinson's disease related to the G2019S and the R1441G mutations of the LRRK2 gene (LRRK2-PD) and idiopathic Parkinson's disease (iPD) patients. Methods We examined cognition and psychiatric symptoms in 27 patients with LRRK2-PD (12 G2019S and 15 R1441G) and 27 iPD patients. Results The groups were similar in age, education, disease duration, levodopa equivalent daily dose, and Unified Parkinson's Disease Rating Scale (...
17 Citations Source Cite
Published on Apr 15, 2015in Movement Disorders 8.06
Sindhu Srivatsal3
Estimated H-index: 3
,
Brenna Cholerton27
Estimated H-index: 27
(UW: University of Washington)
+ 30 AuthorsJoseph F. Quinn64
Estimated H-index: 64
(OHSU: Oregon Health & Science University)
Author(s): Srivatsal, S; Cholerton, B; Leverenz, JB; Wszolek, ZK; Uitti, RJ; Dickson, DW; Weintraub, D; Trojanowski, JQ; Van Deerlin, VM; Quinn, JF; Chung, KA; Peterson, AL; Factor, SA; Wood-Siverio, C; Goldman, JG; Stebbins, GT; Bernard, B; Ritz, B; Rausch, R; Espay, AJ; Revilla, FJ; Devoto, J; Rosenthal, LS; Dawson, TM; Albert, MS; Mata, IF; Hu, SC; Montine, KS; Johnson, C; Montine, TJ; Edwards, KL; Zhang, J; Zabetian, CP | Abstract: © 2015 International Parkinson and Movement Disorder Society...
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Published on Jan 1, 2015in Behavioural Neurology 1.91
Yifan Zheng5
Estimated H-index: 5
,
Zhong Pei18
Estimated H-index: 18
+ 5 AuthorsQi Wu6
Estimated H-index: 6
Background. LRRK2 S1647T has been identified as a polymorphic risk variant for Parkinson's disease (PD) in Chinese individuals. As LRRK2 is the most common genetic cause for PD, it has drawn great interest regarding whether cognitive impairments in PD are related with LRRK2. Purpose. This study aimed to explore the effects of LRRK2 S1647T polymorphism on cognitive function in PD. Method. 90 PD patients were randomly recruited. They underwent a series of clinical evaluations and genetic testing f...
2 Citations Source Cite