Clinical and Biochemical Differences in Patients Having Parkinson Disease With vs Without<i>GBA</i>Mutations

Chahine, Lana M.; Qiang, Judy; Ashbridge, Emily; Minger, James; Yearout, Dora; Horn, Stacy; Colcher, Amy; Hurtig, Howard I.; Lee, Virginia M.‐Y.; Deerlin, Vivianna M. Van; Leverenz, James B.; Siderowf, Andrew; Trojanowski, John Q.; Zabetian, Cyrus P.; Chen‐Plotkin, Alice S.

doi:10.1001/jamaneurol.2013.1274

Cited by 122 publications

(95 citation statements)

References 32 publications

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“…The lower onset age, more frequent family history and dementia, and worse disease severity of PD in patients with GBA mutations, compared with those without mutations, were consistent with previous cross-sectional case-control reports (Anheim et al, 2012;Brockmann et al, 2011;Chahine et al, 2013;Lesage et al, 2011;Li et al, 2013;Mitsui et al, 2009;Neumann et al, 2009;Seto-Salvia et al, 2012;Sidransky et al, 2009). In contrast, female-predominance (73.7%, p ¼ 0.047) in patients with mutations observed in the present study is inconsistent (Neumann et al, 2009;Seto-Salvia et al, 2012).…”

Section: Cross-sectional Clinical Figures Of Pd With Gba Mutationssupporting

confidence: 92%

“…In cross-sectional analyses of GBA mutations in PD patients, earlier disease onset, increased cognitive impairment, a greater family history of PD, and more frequent pain were reported in patients with mutations, compared with no mutations (Chahine et al, 2013;Clark et al, 2007;Gan-Or et al, 2008;Kresojevic et al, 2015;Lwin et al, 2004;Malec-Litwinowicz et al, 2014;Mitsui et al, 2009;Neumann et al, 2009;Nichols et al, 2009;Seto-Salvia et al, 2012;Sidransky et al, 2009;Swan and SaundersPullman, 2013;Wang et al, 2012). Recently, a few prospective studies have investigated clinical features of PD with GBA and showed a more rapid progression of motor impairment and cognitive decline in GBA mutation cases than in PD controls (Beavan et al, 2015;Brockmann et al, 2015;Winder-Rhodes et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

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Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease

Oeda

Umemura

Mori

et al. 2015

Neurobiology of Aging

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Homozygous mutations of the glucocerebrosidase gene (GBA) cause Gaucher disease (GD), and heterozygous mutations of GBA are a major risk factor for Parkinson's disease (PD). This study examined the impact of GBA mutations on the longitudinal clinical course of PD patients by retrospective cohort design. GBA-coding regions were fully sequenced in 215 PD patients and GD-associated GBA mutations were identified in 19 (8.8%) PD patients. In a retrospective cohort study, time to develop dementia, psychosis, wearing-off, and dyskinesia were examined. Survival time analysis followed a maximum 12-year observation (median 6.0 years), revealing that PD patients with GD-associated mutations developed dementia and psychosis significantly earlier than those without mutations (p < 0.001 and p = 0.017, respectively). Adjusted hazard ratios of GBA mutations were 8.3 for dementia (p < 0.001) and 3.1 for psychosis (p = 0.002). No statistically significant differences were observed for wearing-off and dyskinesia between the groups. N-isopropyl-p[(123)I] iodoamphetamine single-photon emission tomography pixel-by-pixel analysis revealed that regional cerebral blood flow was reduced in the bilateral parietal cortex, including the precuneus of GD-associated mutant PD patients, compared with matched PD controls without mutations.

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Section: Cross-sectional Clinical Figures Of Pd With Gba Mutationssupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease

Oeda

Umemura

Mori

et al. 2015

Neurobiology of Aging

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“…Genetic factors have also been implicated in progression to PDD, but studies investigating this association have yielded conflicting results and have been limited by small sample size or cross-sectional designs [52]. In particular, two risk genes for PD, MAPT and GBA, have been associated with cognitive impairment [36,53,54]. The tau gene variability constitutes a robust disease risk factor for PD, and the MAPT haplotype H1 (versus H2) not only predisposes to PD but has also been associated with cognitive decline in PD [53], possibly by altering the cortical expression of 4-versus 3-repeat tau isoforms [55].…”

Section: Non-motor Outcomesmentioning

confidence: 99%

Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement

Puschmann

Brighina

Μarkopoulou

et al. 2015

Parkinsonism & Related Disorders

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Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical progression and long-term outcomes. For the PD patient, caregivers, and clinicians, information on expected clinical progression and long-term outcomes is of great importance. Today, it remains largely unknown what factors influence long-term clinical progression and outcomes in PD; recent data indicate that the factors that increase the risk to develop PD differ, at least partly, from those that accelerate clinical progression and lead to worse outcomes. Prospective studies will be required to identify factors that influence progression and outcome. We suggest that data for such studies is collected during routine office visits in order to guarantee high external validity of such research. We report here the results of a consensus meeting of international movement disorder experts from the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium, who convened to define which long-term outcomes are of interest to patients, caregivers and clinicians, and what is presently known about environmental or genetic factors influencing clinical progression or long-term outcomes in PD. We propose a panel of rating scales that collects a significant amount of phenotypic information, can be performed in the routine office visit and allows international standardization. Research into the progression and long-term outcomes of PD aims at providing individual prognostic information early, adapting treatment choices, and taking specific measures to provide care optimized to the individual patient's needs.

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“…In one cohort up to half of the PD patients heterozygous for GBA mutations developed cognitive impairment later in their disease [ 47 ]. PD patients with GBA mutations were more likely to demonstrate cognitive dysfunction compared to patients without [ 48 ], and in another study hazard ratio for progression to dementia was found to be signifi cantly higher in GBA mutation carriers [ 49 ].…”

Section: Genetic Factorsmentioning

confidence: 95%

Parkinson’s Disease Dementia

Bılgıç

Hanağası

Emre

2014

Neuropsychiatric Symptoms of Movement Disorders

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Clinical and Biochemical Differences in Patients Having Parkinson Disease With vs WithoutGBAMutations

Cited by 122 publications

References 32 publications

Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease

Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease

Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement

Parkinson’s Disease Dementia

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