Evaluation of a French Regional Telemedicine Network Dedicated to Neurological Emergencies: A 14-Year Study.

BACKGROUND: Equality in healthcare between urban and rural areas is problematic in France. Telemedicine networks are expected to improve equality in expertise assessment. We aimed to evaluate the use and impact of a regional rural French telemedicine network, dedicated to medical and surgical neurological emergencies, on interhospital patient transfers. METHODS: Eight community hospital emergency departments were remotely connected to the only university hospital in Franche-Comté, France. We prospectively obtained data from all patients consecutively admitted to emergency care departments in the region and who received medical or neurosurgical expertise by telemedicine from January 2002 to December 2015. The reasons for requesting expertise, number of requested neurological opinions, and interhospital patient transfers were analyzed. Economic savings were determined by estimating the cost of avoided transfers. RESULTS: A total of 23,710 patients had telemedicine consultations in the region. The network was used by every community hospital (independently of the existence of local neurological teams). These consultations were overwhelmingly for cases of stroke (30%) and head or spinal injuries (36%). Cerebral tumors represented 9% of teleconsultations. In 2015, 75% of patients admitted to the remote hospitals that did not have onsite neurological expertise nevertheless received neurovascular tele-expertise. The rate of thrombolyzed patients dramatically increased within 13 years regionally (9.9%) and 33.5% of thrombolyses were performed by telemedicine. The number of patients examined by telemedicine and admitted for head or spinal injuries also increased over the 13-year period (12% vs. 21%). Secondary interhospital transfers were halved for both pathologies. The estimated saving is ∼€3.5 million. CONCLUSION: Telemedicine networks facilitate acute-phase neurological assessment and prevent unnecessary secondary interhospital transfers.

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.

BACKGROUND: At least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been cloned for 10 nucleotide repeat expansions (SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and 31) and six genes with classical mutations (SCA5, 13, 14, 15/16, 27 and 28). Recently, a large British pedigree linked to SCA11 has been reported to carry a mutation in the TTBK2 gene. In order to assess the prevalence and phenotypic spectrum of SCA11, the authors screened 148 index patients of predominantly German (n=69) and French (n=79) descent with ADCA tested negative for a panel of SCA mutations (SCA1, 2, 3, 6, 7 and 17), for mutations in TTBK2. METHODS: In the German ADCA cohort, the complete coding sequence of the TTBK2 gene was PCR-amplified and screened for mutations by high-resolution-melting (HRM) analysis. In the French cohort, exons known to carry mutations were directly sequenced. For both cohorts, the gene-dosage alterations were assessed using a customised multiplex ligation probe amplification (MLPA) assay. RESULTS: In two of 148 ADCA families--one German and one French--the authors identified a potentially disease-causing SCA11 mutation. Interestingly, both carried an identical two-basepair deletion (c.1306_1307delGA, p.D435fs448X in exon 12) leading to a premature stop codon. Gene-dosage alterations were not detected in the TTBK2 gene. Clinically, the SCA11 patients had phenotypic characteristics as described before presenting with slowly progressive almost pure cerebellar ataxia with normal life expectancy. CONCLUSION: SCA11 presented as ADCA III according to Harding's classification and is a rare cause of spinocerebellar ataxia in Caucasians accounting for less than 1% of dominant ataxias in central Europe.