Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.
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Ostrozovicova Miriam, Tamas Gertrud, Atputhavadivel Agsha, Dusek Petr, Grofik Milan, Han Vladimir, Holly Petr, Jech Robert, Kalinova Katarina, Klivenyi Peter, Kovacs Norbert, Kulcsarova Kristina, Kurca Egon, Lackova Alexandra, Lee Hamin, Lewis Patrick, Magocova Veronika, Marekova Maria, Murphy David, Nagano Ai, Necpal Jan, Pinter David, Rabajdova Miroslava, Ruzicka Evzen, Serranova Tereza, Smilowska Katarzyna, Soos Krisztina, Straka Igor, Svorenova Tatiana, Valkovic Peter, Zarubova Katerina, Gdovinova Zuzana, Houlden Henry, Rizig Mie, Skorvanek Matej, CEGEMOD consortium
Аннотация
OBJECTIVE: The aim was to evaluate the frequency and phenotype of p.L1795F in early-onset PD (EOPD) and familial PD compared to healthy controls (HC) in Central Europe.
METHODS: Whole-exome sequencing was used to screen 219 EOPD and familial PD patients of Central Europeans compared to HC. Sanger sequencing assessed segregation. Detailed clinical phenotype was evaluated for all positive carriers.
RESULTS: p.L1795F was identified in 1.37% (3/219) and 3.23% of familial cases (3/93), with no carriers among HCs (0/303). Segregation analysis confirmed association with PD. Carriers were traced to the eastern Slovak-Hungarian region. It also appears to be associated with a more aggressive phenotype.
CONCLUSION: Our data indicate that p.L1795F contributes to PD in Central Europe. Further exploration in larger cohorts is warranted to establish its contribution to global PD risk.