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Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S, Weill C, Ponger P, Nassar M, Reiner J, Chorin O, Parlar SC, Alcalay RN, Gan-Or Z, Ezra A, Saar A, Thaler A, Cohen OS, Zlotnik Y, Benizri S, Nitsan Z, Djaldetti R, Yahalom G, Schlesinger I, Klein C, Paul JJ, Curado F, Oren L, Iftikhar S, Bauer P, Gurevich T, Arkadir D, Hassin-Baer S, Greenbaum L. Anis S, et al. Parkinsonism Relat Disord. 2025 Aug;137:107940. doi: 10.1016/j.parkreldis.2025.107940. Epub 2025 Jun 28. Parkinsonism Relat Disord. 2025. PMID: 40617169 Free article.
Seven participants, including one with a positive PDGT, had positive testing findings in genes related to dystonia (GCH1 and TOR1A) and dementia (MAPT). CONCLUSIONS: Genetic testing for Israeli PD patients is beneficial, while the yield is primarily attributed to LRRK2 and …
Seven participants, including one with a positive PDGT, had positive testing findings in genes related to dystonia (GCH1 and TOR1A) a …
Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient.
Tanzer K, Meier B, Vulinovic F, Pawlack H, Klein C, Seibler P, Rakovic A. Tanzer K, et al. Stem Cell Res. 2024 Dec;81:103595. doi: 10.1016/j.scr.2024.103595. Epub 2024 Oct 21. Stem Cell Res. 2024. PMID: 39490211 Free article.
A 3-bp deletion (deltaGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell (iPSC) lines …
A 3-bp deletion (deltaGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism …
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.
Kaymak A, Colucci F, Ahmadipour M, Andreasi NG, Rinaldo S, Israel Z, Arkadir D, Telese R, Levi V, Zorzi G, Carpaneto J, Carecchio M, Prokisch H, Zech M, Garavaglia B, Bergman H, Eleopra R, Mazzoni A, Romito LM. Kaymak A, et al. Ann Neurol. 2025 May;97(5):826-844. doi: 10.1002/ana.27185. Epub 2025 Jan 30. Ann Neurol. 2025. PMID: 39887724 Free PMC article.
METHODS: Herein, we analyzed microelectrode recordings acquired during pallidal deep brain stimulation surgery from 31 dystonia patients with pathogenic mutations in the AOPEP, GNAL, KMT2B, PANK2, PLA2G6, SGCE, THAP1, TOR1A, and VPS16 genes. We identified 1,694 single unit …
METHODS: Herein, we analyzed microelectrode recordings acquired during pallidal deep brain stimulation surgery from 31 dystonia patients wit …
KIF5A variant in familial dystonia: A clinicogenetic study of a large Roma kindred.
Dulski J, Pant DC, Hoffman-Zacharska D, Kwaśniak-Butowska M, Wszolek ZK, Sławek J. Dulski J, et al. Parkinsonism Relat Disord. 2025 Jun;135:107825. doi: 10.1016/j.parkreldis.2025.107825. Epub 2025 Apr 23. Parkinsonism Relat Disord. 2025. PMID: 40311553
Genetic screening, including Sanger sequencing, MLPA analysis of SGCE, and PCR RFLP/BseRI for the common dystonia TOR1A mutation (c.907-909del), followed by whole exome sequencing, was performed on the proband and one affected relative. ...
Genetic screening, including Sanger sequencing, MLPA analysis of SGCE, and PCR RFLP/BseRI for the common dystonia TOR1A mutation (c.9 …