%0 Journal Article %T Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases %+ Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) %+ Laboratoire de Biologie Cellulaire et Moléculaire %+ Service de Neurologie %+ Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM) %+ Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière] %+ CHU Pitié-Salpêtrière [AP-HP] %+ Service de Neurologie [CHU Pitié-Salpêtrière] %+ Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon) %+ Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon) %+ Génétique des Anomalies du Développement (GAD) %+ Hôpital de Hautepierre [Strasbourg] %+ CHU Trousseau [APHP] %+ Centre Hospitalier Universitaire de Toulouse (CHU Toulouse) %A Mallaret, Martial %A Renaud, Mathilde %A Redin, Claire %A Drouot, Nathalie %A Muller, Jean %A Severac, Francois %A Hamza, Wahiba %A Benhassine, Traki %A Tazir, Meriem %A Durr, Alexandra %A Monin, Marie-Lorraine %A Mignot, Cyril %A Charles, Perrine %A van Maldergem, Lionel %A Chamard, Ludivine %A Thauvin-Robinet, Christel %A Laugel, Vincent %A Burglen, Lydie %A Calvas, Patrick %A Fleury, Marie-Céline %A Anheim, Mathieu %A Koenig, Michel %Z Ipsen Merz Actelion %< avec comité de lecture %@ 0340-5354 %J Journal of Neurology %I Springer Verlag %V 263 %N 7 %P 1314 - 1322 %8 2016-07 %D 2016 %R 10.1007/s00415-016-8112-5 %K Recessive ataxia %K Next generation sequencing %K Neurogenetics %K Electromyography %K phenotypic variability %K mutations %K adck3 %K cabc1/adck3 %K deficiency %K atrophy %K cohort %K gene %K form %Z Life Sciences [q-bio]/Cellular BiologyJournal articles %X Establishing a molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is challenging due to phenotype and genotype heterogeneity. We report the validation of a previously published clinical practice-based algorithm to diagnose ARCA. Two assessors performed a blind analysis to determine the most probable mutated gene based on comprehensive clinical and paraclinical data, without knowing the molecular diagnosis of 23 patients diagnosed by targeted capture of 57 ataxia genes and high-throughput sequencing coming from a 145 patients series. The correct gene was predicted in 61 and 78 % of the cases by the two assessors, respectively. There was a high inter-rater agreement [K = 0.85 (0.55-0.98) p < 0.001] confirming the algorithm's reproducibility. Phenotyping patients with proper clinical examination, imaging, biochemical investigations and nerve conduction studies remain crucial for the guidance of molecular analysis and to interpret next generation sequencing results. The proposed algorithm should be helpful for diagnosing ARCA in clinical practice. %G English %L hal-01405178 %U https://u-bourgogne.hal.science/hal-01405178 %~ UNIV-BOURGOGNE %~ UPMC %~ CNRS %~ IGBMC %~ APHP %~ UNIV-STRASBG %~ ICM %~ UPMC_POLE_4 %~ IBPS %~ SITE-ALSACE %~ SORBONNE-UNIVERSITE %~ SU-INF-2018 %~ SU-MEDECINE %~ SU-SCIENCES %~ SU-MED %~ INFINITY %~ ALLIANCE-SU