{"id":6424,"date":"2026-10-19T09:48:53","date_gmt":"2026-10-19T09:48:53","guid":{"rendered":"https:\/\/phd.hi.is\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-astros-thorarensen-skuladottir\/"},"modified":"2026-10-19T09:48:53","modified_gmt":"2026-10-19T09:48:53","slug":"doktorsvorn-i-lif-og-laeknavisindum-astros-thorarensen-skuladottir","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-astros-thorarensen-skuladottir\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00edf- og l\u00e6knav\u00edsindum – \u00c1str\u00f3s Thorarensen Sk\u00falad\u00f3ttir"},"content":{"rendered":"
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\u00deri\u00f0judaginn 18. n\u00f3vember 2025 ver \u00c1str\u00f3s Thorarensen Sk\u00falad\u00f3ttir doktorsritger\u00f0 s\u00edna \u00ed l\u00edf- og l\u00e6knav\u00edsindum vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands. Ritger\u00f0in ber heiti\u00f0: Erf\u00f0ir og l\u00edfmerki hreyfitaugaraskana. Genetics and Biomarkers of Movement Disorders.<\/p>\n

Andm\u00e6lendur eru dr. Per Svenningsson, pr\u00f3fessor vi\u00f0 Karolinska Institutet og sj\u00fakrah\u00fasi\u00f0 \u00ed Stokkh\u00f3lmi og dr. Henrik Zetterberg, pr\u00f3fessor vi\u00f0 Sahlgrenska sj\u00fakrah\u00fasi\u00f0 \u00ed Gautaborg.<\/p>\n

Umsj\u00f3narkennari var \u00d3lafur \u00c1rni Sveinsson og lei\u00f0beinandi K\u00e1ri Stef\u00e1nsson. Auk \u00feeirra s\u00e1tu \u00ed doktorsnefnd Anna Bj\u00f6rnsd\u00f3ttir, taugal\u00e6knir, og Hreinn Stef\u00e1nsson, deildarstj\u00f3ri.<\/p>\n

S\u00e6d\u00eds S\u00e6varsd\u00f3ttir, pr\u00f3fessor og deildarforseti L\u00e6knadeildar, stj\u00f3rnar ath\u00f6fninni sem fer fram \u00ed H\u00e1t\u00ed\u00f0asal H\u00e1sk\u00f3la \u00cdslands og hefst kl. 09:00.<\/p>\n

\u00c1grip<\/strong><\/p>\n

Hreyfitaugaraskanir eru me\u00f0al algengustu taugasj\u00fakd\u00f3ma en sj\u00fakd\u00f3msmyndun \u00feeirra er enn a\u00f0 miklu leyti \u00f3lj\u00f3s. Markmi\u00f0 \u00feessarar ritger\u00f0ar var a\u00f0 bera kennsl \u00e1 erf\u00f0a\u00e1h\u00e6ttu\u00fe\u00e6tti sem varpa lj\u00f3si \u00e1 undirliggjandi bo\u00f0ferla og sj\u00fakd\u00f3msmyndun \u00ed fj\u00f6lskylduskj\u00e1lfta og Parkinsons sj\u00fakd\u00f3mi (PD), og finna l\u00edfmerki sem geta greint e\u00f0a sp\u00e1\u00f0 fyrir um PD me\u00f0 meiri n\u00e1kv\u00e6mni og fyrr \u00ed sj\u00fakd\u00f3msferlinu. Ritger\u00f0in er bygg\u00f0 \u00e1 \u00feremur ranns\u00f3knum. S\u00fa fyrsta er v\u00ed\u00f0t\u00e6k erf\u00f0amengjaleit \u00ed safngreiningu (e. meta-analysis) \u00e1 fj\u00f6lskylduskj\u00e1lfta, \u00fear sem nota\u00f0 var tj\u00e1ningar- og pr\u00f3teing\u00f6gn til a\u00f0 benda \u00e1 l\u00edkleg orsakagen og bo\u00f0ferla. \u00d6nnur ranns\u00f3knin er genabyr\u00f0igreining (e. gene-burden analysis) \u00e1 sjaldg\u00e6fum breytileikum sem valda tapi \u00e1 virkni pr\u00f3teins \u00feess \u00ed PD. \u00cd \u00feeirri \u00feri\u00f0ju er sko\u00f0a\u00f0 pr\u00f3teinmynstur \u00ed m\u00e6nuv\u00f6kva og bl\u00f3\u00f0v\u00f6kva einstaklinga me\u00f0 PD \u00e1 mismunandi stigum, allt a\u00f0 t\u00edu \u00e1rum fyrir greiningu, vi\u00f0 greiningu og \u00ed allt a\u00f0 \u00e1tta \u00e1r eftir greiningu. Saman s\u00fdna ranns\u00f3knirnar fram \u00e1 sameiginlega sj\u00fakd\u00f3msferla \u00e1 bor\u00f0 vi\u00f0 flutning \u00e1 taugam\u00f3tabl\u00f6\u00f0rum og frumugrindarvirkni og sty\u00f0ja einnig sam\u00fe\u00e6ttingu erf\u00f0a- og pr\u00f3teingagna til a\u00f0 skilja hreyfitaugaraskanir.<\/p>\n

Abstract <\/strong><\/p>\n

Movement disorders are among the most common neurological conditions, yet their molecular mechanisms remain incompletely understood. The overarching aim of this thesis was to explore the genetic and molecular architecture of the two most prevalent movement disorders, essential tremor (ET) and Parkinson\u2019s disease (PD), to identify risk factors, clarify biological pathways, and discover biomarkers that can enable earlier and more accurate diagnosis. The thesis is based on three studies. The first is a large-scale genome-wide association study meta-analysis of ET with multiomics approaches to prioritize causal genes for pathway analysis. The second is a gene-burden analysis of loss-of-function variants in PD. The third applies large-scale proteomic profiling of cerebrospinal fluid and plasma to study PD across different stages, from pre-onset to early disease to symptom severity and progression. Together, the findings show a consistent involvement of Rho GTPase signaling and synaptic vesicle function, particularly clathrin-mediated endocytosis, in the pathogenesis of both ET and PD, suggesting their importance in contributing to neuronal vulnerability in movement disorders.<\/p>\n

Um doktorsefni\u00f0<\/strong><\/p>\n

\u00c1str\u00f3s Th. Sk\u00falad\u00f3ttir er f\u00e6dd \u00e1ri\u00f0 1991 \u00ed Keflav\u00edk. H\u00fan lauk B.Sc. pr\u00f3fi \u00ed l\u00edfefna- og sameindal\u00edffr\u00e6\u00f0i vi\u00f0 H\u00e1sk\u00f3la \u00cdslands 2014 og h\u00f3f \u00ed kj\u00f6lfari\u00f0 st\u00f6rf vi\u00f0 erf\u00f0aranns\u00f3knir \u00e1 taugav\u00edsindasvi\u00f0i \u00cdslenskrar erf\u00f0agreiningar. Sams\u00ed\u00f0a st\u00f6rfum s\u00ednum lauk h\u00fan M.Sc. pr\u00f3fi \u00ed l\u00edf- og l\u00e6knav\u00edsindum \u00fear sem verkefni hennar fjalla\u00f0i um lengdarbreytileika \u00ed taugar\u00f6skunum. \u00c1ri\u00f0 2023 h\u00f3f h\u00fan doktorsn\u00e1m undir handlei\u00f0slu dr. K\u00e1ra Stef\u00e1nssonar og dr. Hreins Stef\u00e1nssonar. Foreldrar \u00c1str\u00f3sar eru Sk\u00fali \u00c1g\u00fastsson og Stella Mar\u00eda Thorarensen. Eiginma\u00f0ur \u00c1str\u00f3sar er Birkir M\u00e1r \u00c1rnason og saman eiga \u00feau Dagbj\u00f6rtu R\u00f3s (2 \u00e1ra) og eiga von \u00e1 \u00f6\u00f0ru barni.<\/p>\n<\/div><\/div>","protected":false},"featured_media":5811,"template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"_phd_date_start":"2025-11-18T09:00:00+00:00","_phd_date_end":"2025-11-18T12:00:00+00:00","_phd_location":"A\u00f0albygging H\u00e1t\u00ed\u00f0asalur","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"Erf\u00f0ir og l\u00edfmerki hreyfitaugaraskana. 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