Distonija kao manifestacija korea-akantocitoze

The aim of this article is to present two Slovenian chorea-acanthocytosis (ChAc) siblings with an unusual predominantly dystonic ChAc phenotype. For diagnostic purposes, the genomic DNA was screened for VPS13A mutations. Movement disorder was evaluated and scored according to the Dystonia Movement and Disability Scale (DMDS) in order to evaluate the effects of L-dopa on dystonia. Brain imaging was performed with the use of magnetic resonance imaging scan and 99m Tc-ethyl cysteinate dimmer single photon emission computed tomography (Tc-ECD SPECT). Clinical neurological examination disclosed gait dystonia. Marked swallowing difficulty due to tongue and feeding dystonia was observed. Both siblings were found to be heterozygous for a substitution in exon 22 (c.2191C>T) and for a deletion in exon 35 (c.3995_3996delinsA) leading to mutation in VPS13A. After being administered L-dopa for three months, both subjects showed significant symptomatic improvement documented by reduced DMDS scores. It is concluded that VPS13A mutation testing may improve diagnosis of dystonia and recognition of atypical ChAc phenotypes. It seems that L-dopa could be effective in the treatment of dystonia due to VPS13A mutations.Prikazuje se dvoje slovenskih bolesnika, brat i sestra, s koreom-akantocitozom, s neuobičajenim pretežito distoničnim fenotipom korea-akantocitoze. Proveden je dijagnostički probir genomske DNA na mutacije VPS13A. Poremećaj kretanja procijenjen je i ocijenjen prema Dystonia Movement and Disability Scale (DMDS) kako bi se procijenili učinci L-dopa na distoniju. Slikovni prikazi mozga napravljeni su pomoću magnetske rezonance i Tc-ECD SPECT (99m Tc-ethyl cysteinate dimmer single photon emission computed tomography). Klinički neurološki pregled otkrio je distoniju hoda. Zapažene su znatne teškoće pri gutanju zbog distonije jezika i distonija hranjenja. I brat i sestra bili su heterozigotni za supstituciju u eksonu 22 (c.2191C>T) i za deleciju u eksonu 35 (c.3995_3996delinsA), koje uzrokuju mutaciju u VPS13A. Nakon davanja L-dopa kroz tri mjeseca oboje je pokazalo značajno poboljšanje simptoma, što je dokumentirano sniženim zbirom na DMDS. Zaključuje se da testiranje na mutaciju VPS13A može pomoći u dijagnosticiranju distonije i prepoznavanju atipičnih fenotipova korea-akantocitoze. Čini se da bi L-dopa mogla biti učinkovita u liječenju distonije uzrokovane mutacijama VPS13A

Telestroke activity across Europe; The results of a European Stroke Organization survey

IntroductionTelestroke care is likely not inferior to face-to-face care in acute stroke management while it also provides rural sites with access to specialist expertise. However, little is known about the distribution and activity of telestroke networks across Europe. Consequently, the European Stroke Organization (ESO) Telestroke Committee aimed to address this through an online questionnaire.MethodsThe questionnaire was developed through an unstructured consensus process, ratified by the ESO Executive Committee, and emailed to ESO members.ResultsOf 2,147 ESO members contacted, complete data sets were submitted on 25 networks from 10 countries. Among the 25 networks, the mean number of hubs per network was 1.6 (SD 1.2), and the mean number of spokes was 9 (SD 6.7), with considerable variability observed (range 2–24 spokes/network). All sites used audiovisual communication. The mean telemedicine consultations per year per site was 197 (SD 164). The primary reason for consultation was “diagnostic and triage purposes” in all but one network. The median number of strokes per site was 175 (interquartile range 192), and the mean intervention rate was 12.3% (SD 10; thrombolysis or thrombectomy).ConclusionAt 25 networks, this survey probably underrepresents telestroke activity across Europe, yet it is still the first study to provide a continent-wide geographical footprint and report on activity within the networks. There was considerable variability in network size and activity. Spoke sites reported an acceptable intervention rate of 12.3%. This percentage compares favorably with national data from European countries and suggests telestroke care supports reasonable intervention rates