Alexander Zimprich

Analysis of LRRK2 G2019S carriers in the All of Us research program database

Alexander Zimprich

at (code pays fourni par la source)

Diagnostic value of genetic testing in chorea: a retrospective monocentric study

Tekla Anna Fodor, Ivan Milenkovic, Alexander Zimprich, Christof Brücke

BACKGROUND: Chorea is a hyperkinetic movement disorder with a broad differential diagnosis, ranging from acute symptomatic causes to slowly progressive neurogenetic diseases. While Huntington's disease (HD) remains the most prevalent hereditary form, numerous other genetic disorders may mimic its clinical presentation. A …

at (code pays fourni par la source)

Pathology and Genetics in a Global Cohort of Parkinsonian Disorders

Lesley Y. Wu, Tessa du Toit, Tatiana Georgiades, Eleanor J. Stafford et autres

Importance: Accurate diagnosis of neurodegenerative movement disorders is challenging because of a lack of in vivo biomarkers, overlapping clinical features, and a delay in the emergence of pathognomonic features. Objective: To evaluate clinicopathological correlation, diagnostic accuracy, genetic association with pathology, and ancestry-related …

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Genetic variation in antidiabetic drug targets: associations with Parkinson’s disease risk and age at onset

Katalin Vincze, Agnieszka Szwajda, Alexander Ploner, Robert Karlsson et autres

To investigate whether antidiabetic drugs have a biological basis to be repurposed in PD prevention, we applied a drug target Mendelian randomization framework to assess associations between genetic variation in antidiabetic drug targets and PD risk or age at onset (AAO). Instrumental …

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Genome-wide association and population-tailored polygenic risk for Parkinson’s disease in Taiwan

Yung‐Tsai Chu, Yu-An Su, Chin-Hsien Lin, Chun‐Hwei Tai et autres

Genetic risk factors for Parkinson's disease (PD) remain under-characterized in East Asian populations. We assembled a Taiwanese case-control cohort (2245 PD; 2147 controls), genotyped participants using the Illumina NeuroBooster Array, and imputed 7.6 million variants with the Taiwan Biobank reference panel. Logistic-regression …

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Rare biallelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease

Tuğba Kalaycı, Kathryn A. Wikenheiser‐Brokamp, Sara Gomes, Eshaan S. Rawat et autres

Summary We report that biallelic LRRK2 loss-of-function (LoF) causes a Mendelian form of interstitial lung disease characterized by alveolar epithelial cell dysfunction and lung fibrosis in two brothers with a homozygous nonsense variant. Integrated clinical, imaging, histopathological, and biomarker analyses showed absent …

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