Phenotype in parkinsonian and nonparkinsonian
 LRRK2
 G2019S mutation carriers

Marras, Connie; Schuele, Birgitt; Munhoz, Renato P.; Rogaeva, Ekaterina; Langston, J. William; Kasten, Meike; Meaney, Christopher; Klein, Christine; Wadia, Pettarusp M; Lim, Shen Yang; Chuang, Rosalind; Zadikof, C.; Steeves, Thomas; Prakash, Kumar M.; Bie, Rob M.A. de; Adeli, G M; Thomsen, Teri; Johansen, Krisztina K.; Teive, Hélio Afonso Ghizoni; Asante, Abena; Reginold, William; Lang, Anthony E.

doi:10.1212/wnl.0b013e318227042d

Cited by 151 publications

(131 citation statements)

References 19 publications

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“…These results suggested that the Ishihara visual color test is not appropriate for assessing the colour vision of PD patients. The Farnsworth-Munsell 100 colour test is considered as the best method for evaluating the color perception (20) . The VEP P100 latencies of the PD patients and age-matched controls were similar.…”

Section: Discussionmentioning

confidence: 99%

Applications of visual evoked potentials and Fourier-domain optical coherence tomography in Parkinson’s disease: a controlled study

Quagliato¹,

Domingues²,

Quagliato³

et al. 2014

Arquivos Brasileiros De Oftalmologia

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Purpose: The goal of this cross-sectional observational study was to quantify the pattern-shift visual evoked potentials (VEP) and the thickness as well as the volume of retinal layers using optical coherence tomography (OCT) across a cohort of Parkinson's disease (PD) patients and age-matched controls. Methods: Forty-three PD patients and 38 controls were enrolled. All participants underwent a detailed neurological and ophthalmologic evaluation. Idiopathic PD cases were included. Cases with glaucoma or increased intra-ocular pressure were excluded. Patients were assessed by VEP and high-resolution Fourier-domain OCT, which quantified the inner and outer thicknesses of the retinal layers. VEP latencies and the thicknesses of the retinal layers were the main outcome measures. Results: The mean age, with standard deviation (SD), of the PD patients and controls were 63.1 (7.5) and 62.4 (7.2) years, respectively. The patients were predominantly in the initial Hoehn-Yahr (HY) disease stages (34.8% in stage 1 or 1.5, and 55.8 % in stage 2). The VEP latencies and the thicknesses as well as the volumes of the retinal inner and outer layers of the groups were similar. A negative correlation between the retinal thickness and the age was noted in both groups. The thickness of the retinal nerve fibre layer (RNFL) was 102.7 μm in PD patients vs. 104.2 μm in controls. Conclusions:The thicknesses of retinal layers, VEP, and RNFL of PD patients were similar to those of the controls. Despite the use of a representative cohort of PD patients and high-resolution OCT in this study, further studies are required to establish the validity of using OCT and VEP measurements as the anatomic and functional biomarkers for the evaluation of retinal and visual pathways in PD patients.

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Section: Discussionmentioning

confidence: 99%

Applications of visual evoked potentials and Fourier-domain optical coherence tomography in Parkinson’s disease: a controlled study

Quagliato¹,

Domingues²,

Quagliato³

et al. 2014

Arquivos Brasileiros De Oftalmologia

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“…In the Ashkenazi Jewish population, mutations in leucine-rich repeat kinase 2 (LRRK2) , glucosidase beta acid (GBA) , and sphingomyelin phosphodiesterase 1 (SMPD1) have been shown in excess in PD patients [8,9,10,11,12,13,14,15]. The p.G2019S mutation in LRRK2 was detected in about 10-14% and 26-30% of sporadic and familial Ashkenazi PD patients, respectively [8,16,17].…”

Section: Introductionmentioning

confidence: 99%

LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews

Dagan

Schlesinger

Kurolap

et al. 2016

Dement Geriatr Cogn Disord

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Background/Aim: Parkinson's disease (PD) is associated with mutations in LRRK2, GBA, and SMPD1 genes. We describe the clinical characteristics of PD patients related to their carrier status of the Ashkenazi founder mutations in the aforementioned genes. Methods: Ashkenazi PD patients (n = 270) were recruited following informed consent, and tested for the founder Ashkenazi mutations in the above genes. Clinical characteristics were compared between carriers and noncarriers. Homozygotes for mutations in GBA or LRRK2, and those who carried mutations in two causative genes were excluded from the analysis. Results: Five (1.85%), 54 (20%), and 22 (8.1%) PD patients carried mutations in SMPD1, GBA or LRRK2, respectively. By post hoc Bonferroni analysis, GBA carriers were singled at a significantly earlier age at diagnosis compared to noncarriers (58.06 ± 10.84 and 62.65 ± 10.86 years, respectively; p = 0.036), and due to bilateral manifestation at diagnosis compared to all other PD groups (n = 8, 15.7% compared to n = 2, 1.1%, respectively; p < 0.001). Other clinical manifestations were comparable between groups. Conclusion: Although only GBA mutation carriers, compared to noncarriers, reached statistical significance regarding age at diagnosis, it appears that LRRK2 and SMPD1 mutation carriers may reach significance with larger group numbers.

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“…In our study, the genes were detected by the target sequencing and MPLA, which could identify both sequence and dosage mutations in patients with PD. Our control group of Parkin negative patients referred to those with no mutations or variants ranked as pathogenic, likely pathogenic or VUS detected by the panel, thus eliminated the interference of other genes on olfaction (Marras et al., 2011; Saunders‐Pullman et al., 2011). This was the most significant difference from previous studies (Alcalay et al., 2011; Malek et al., 2016).…”

Section: Discussionmentioning

confidence: 99%

Olfaction in Parkin carriers in Chinese patients with Parkinson disease

Wang

Liu

et al. 2017

Brain and Behavior

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BackgroundOlfactory identification was reported to be better among PD (Parkinson disease) patients with Parkin mutations, but previous studies didn't eliminate the interference of other PD related genes on olfaction, and whether olfaction of Parkin mutations patients was better in Chinese population was still unknown.ObjectiveTo assess olfaction function among PD patients with Parkin mutations in Chinese population.Materials and MethodsA total of 226 PD patients with a positive family history or an early‐onset age (<50 years) were enrolled for genetic testing of PD related genes by target sequencing and multiple ligation‐dependent probe amplification. The clinical data including olfactory function test were investigated. Linear regression was performed to adjust for the covariates between all groups.ResultsThere were 68 patients found having a negative result in PD genetic testing and 43 patients carrying homozygous or compound heterozygous Parkin mutations. Among them, 49 PD panel negative patients and 33 PD‐Parkin patients had results of olfactory assessment. PD ‐Parkin patients performed significantly better on the Sniffin’ Sticks tests than panel negative patients (8.0 ± 1.7 vs. 5.7 ± 1.9, p < .001), but still worse compared to healthy controls (9.4 ± 1.5, p = .003). These differences persisted after adjusting for confounders.ConclusionsAmong Chinese population, PD ‐Parkin patients had relatively preserved olfaction compared to PD panel negative patients after eliminating the interference of other PD related genes, but were still worse than healthy controls.

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Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers

Cited by 151 publications

References 19 publications

Applications of visual evoked potentials and Fourier-domain optical coherence tomography in Parkinson’s disease: a controlled study

Applications of visual evoked potentials and Fourier-domain optical coherence tomography in Parkinson’s disease: a controlled study

<b><i>LRRK2, GBA </i></b>and<b><i> SMPD1 </i></b>Founder Mutations and Parkinson's Disease in Ashkenazi Jews

Olfaction in Parkin carriers in Chinese patients with Parkinson disease

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