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Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

ABSTRACT: Over the last 16 years, insights in clinical and genetic characteristics of Parkinson's disease (PD) have increased substantially. We summarize the clinical, genetic, and pathological findings of autosomal dominant PD linked to mutations in SNCA, leucine-rich repeat kinase 2, vacuolar protein sorting-35, and eukaryotic translation initiation factor 4 gamma 1 and autosomal recessive PD linked to parkin,PINK1, and DJ-1, as well as autosomal recessive complicated parkinsonian syndromes caused by mutations in ATP13A2,FBXO7,PLA2G6,SYNJ1, and DNAJC6. We also review the advances in high- and low-risk genetic susceptibility factors and present multisystem disorders that may present with parkinsonism as the major clinical feature and provide recommendations for prioritization of genetic testing. Finally, we consider the challenges of future genetic research in PD.

SUBMITTER: Sheerin UM

PROVIDER: S-EPMC6183020 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Sheerin Una-Marie UM Houlden Henry H Wood Nicholas W NW

Movement disorders clinical practice 20140410 1

Over the last 16 years, insights in clinical and genetic characteristics of Parkinson's disease (PD) have increased substantially. We summarize the clinical, genetic, and pathological findings of autosomal dominant PD linked to mutations in SNCA, leucine-rich repeat kinase 2, vacuolar protein sorting-35, and eukaryotic translation initiation factor 4 gamma 1 and autosomal recessive PD linked to <i>parkin</i>,PINK1, and DJ-1, as well as autosomal recessive complicated parkinsonian syndromes cause ...[more]

PMID: 30363913

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Project description:BackgroundEvaluating the discrepancies between patient-reported measures and clinician examination has implications for formulating individual treatment regimens.ObjectiveThis study investigated the association between health outcomes and level of self-reported motor-related function impairment relative to clinician-examined motor signs.MethodsRecently diagnosed PD patients were evaluated using the Parkinson's Progression Marker Initiative (PPMI, N = 420) and the PASADENA phase II clinical trial (N = 316). We calculated the average normalized difference between each participant's part II and III MDS-UPDRS (Movement Disorder Society Unified Parkinson's Disease Rating Scale) scores. Individuals with score differences <25th or >75th percentiles were labeled as low- and high-self-reporters, respectively (those between ranges were labeled intermediate-self-reporters). We compared a wide range of clinical/biomarker readouts among these three groups, using Kruskal-Wallis nonparametric and Pearson's χ2 tests. Spearman's correlations were tested for associations between MDS-UPDRS subscales.ResultsIn both cohorts, high-self-reporters reported the largest impairment/symptom experience for most motor and nonmotor patient-reported variables. By contrast, these high-self-reporters were similar to or less impaired on clinician-examined and biomarker measures. Patient-reported nonmotor symptoms on MDS-UPDRS part IB showed the strongest positive correlation with self-reported motor-related impairment (PPMI rs = 0.54, PASADENA rs = 0.52). This correlation was numerically stronger than the part II and clinician-examined MDS-UPDRS part III correlation (PPMI rs = 0.38, PASADENA rs = 0.28).ConclusionSelf-reported motor-related impairments reflect not only motor signs/symptoms but also other self-reported nonmotor measures. This may indicate (1) a direct impact of nonmotor symptoms on motor-related functioning and/or (2) the existence of general response tendencies in how patients self-rate symptoms. Our findings suggest further investigation into the suitability of MDS-UPDRS II to assess motor-related impairments. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Dataset Information

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Publications

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

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