{"id":"https://openalex.org/W2329745482","doi":"https://doi.org/10.1055/s-2006-945713","title":"SACS MUTATIONS IN AUTOSOMAL RECESSIVE SPASTIC ATAXIAS","display_name":"SACS MUTATIONS IN AUTOSOMAL RECESSIVE SPASTIC ATAXIAS","publication_year":2006,"publication_date":"2006-01-01","ids":{"openalex":"https://openalex.org/W2329745482","doi":"https://doi.org/10.1055/s-2006-945713","mag":"2329745482"},"language":"en","primary_location":{"id":"doi:10.1055/s-2006-945713","doi":"https://doi.org/10.1055/s-2006-945713","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2006-945713","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111898153","display_name":"Silvia Di Giandomenico","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S Di Giandomenico","raw_affiliation_strings":["Molecular Medicine, IRCCS Bambino Ges\u00f9 Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Medicine, IRCCS Bambino Ges\u00f9 Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102191807","display_name":"FM Santorelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"FM Santorelli","raw_affiliation_strings":["Molecular Medicine, IRCCS Bambino Ges\u00f9 Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Medicine, IRCCS Bambino Ges\u00f9 Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024369427","display_name":"Chiara Criscuolo","orcid":"https://orcid.org/0000-0003-0087-2397","observed_orcids":["https://orcid.org/0000-0003-0087-2397"]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C Criscuolo","raw_affiliation_strings":["Department of Neurosciences, Federico II University, Napoli, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, Federico II University, Napoli, Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047376869","display_name":"Caterina Mariotti","orcid":"https://orcid.org/0000-0003-2405-3564","observed_orcids":["https://orcid.org/0000-0003-2405-3564"]},"institutions":[{"id":"https://openalex.org/I4210164485","display_name":"Fondazione IRCCS Istituto Neurologico Carlo Besta","ror":"https://ror.org/05rbx8m02","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210164485"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C Mariotti","raw_affiliation_strings":["IRCCS Besta Neurological Institute, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Besta Neurological Institute, Milan, Italy","institution_ids":["https://openalex.org/I4210164485"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017078229","display_name":"Alessandro Simonati","orcid":"https://orcid.org/0000-0001-6908-5418","observed_orcids":["https://orcid.org/0000-0001-6908-5418"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Simonati","raw_affiliation_strings":["Department of Vision and Neurosciences, University of Verona, Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Vision and Neurosciences, University of Verona, Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031188010","display_name":"Guido Greco","orcid":"https://orcid.org/0009-0001-1772-123X","observed_orcids":["https://orcid.org/0009-0001-1772-123X"]},"institutions":[{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"GS Greco","raw_affiliation_strings":["IRCCS Mondino Neurological Istitute, Pavia, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Mondino Neurological Istitute, Pavia, Rome, Italy","institution_ids":["https://openalex.org/I4210095701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A Brice","raw_affiliation_strings":["INSERM U679, Neurology and Experimental Therapeutics, Departement de Genetique, Cytogenetique, et Embryologie, Hopital de la Pitie-Salpetriere, Universite Pierre et Marie Curie, Faculte de Medecine, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U679, Neurology and Experimental Therapeutics, Departement de Genetique, Cytogenetique, et Embryologie, Hopital de la Pitie-Salpetriere, Universite Pierre et Marie Curie, Faculte de Medecine, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027293126","display_name":"Alexandra D\u00fcrr","orcid":"https://orcid.org/0000-0002-8921-7104","observed_orcids":["https://orcid.org/0000-0002-8921-7104"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A Durr","raw_affiliation_strings":["INSERM U679, Neurology and Experimental Therapeutics, Departement de Genetique, Cytogenetique, et Embryologie, Hopital de la Pitie-Salpetriere, Universite Pierre et Marie Curie, Faculte de Medecine, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U679, Neurology and Experimental Therapeutics, Departement de Genetique, Cytogenetique, et Embryologie, Hopital de la Pitie-Salpetriere, Universite Pierre et Marie Curie, Faculte de Medecine, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112924308","display_name":"A Filla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Filla","raw_affiliation_strings":["Department of Neurosciences, Federico II University, Napoli, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, Federico II University, Napoli, Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006492716","display_name":"Giovanni St\u00e9vanin","orcid":"https://orcid.org/0000-0001-9368-8657","observed_orcids":["https://orcid.org/0000-0001-9368-8657","https://orcid.org/0000-0003-2770-8407"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"G Stevanin","raw_affiliation_strings":["INSERM U679, Neurology and Experimental Therapeutics, Departement de Genetique, Cytogenetique, et Embryologie, Hopital de la Pitie-Salpetriere, Universite Pierre et Marie Curie, Faculte de Medecine, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U679, Neurology and Experimental Therapeutics, Departement de Genetique, Cytogenetique, et Embryologie, Hopital de la Pitie-Salpetriere, Universite Pierre et Marie Curie, Faculte de Medecine, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059742070","display_name":"Enrico Bertini","orcid":"https://orcid.org/0000-0001-9276-4590","observed_orcids":["https://orcid.org/0000-0001-9276-4590"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"E Bertini","raw_affiliation_strings":["Molecular Medicine, IRCCS Bambino Ges\u00f9 Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Medicine, IRCCS Bambino Ges\u00f9 Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.1743487,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"37","issue":"S 1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.6309000253677368,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.6309000253677368,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.3458999991416931,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.012299999594688416,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/arsacs","display_name":"ARSACS","score":0.8479999899864197},{"id":"https://openalex.org/keywords/sacs-gene","display_name":"SACS gene","score":0.906000018119812},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.6169999837875366},{"id":"https://openalex.org/keywords/cerebellar-atrophy","display_name":"cerebellar atrophy","score":0.8560000061988831},{"id":"https://openalex.org/keywords/axonal-sensorimotor-neuropathy","display_name":"axonal sensorimotor neuropathy","score":0.8859999775886536},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7680000066757202},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8489999771118164}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6539621353149414},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6523711681365967},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5690174102783203},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5149653553962708},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4944112300872803},{"id":"https://openalex.org/C2779736392","wikidata":"https://www.wikidata.org/wiki/Q220989","display_name":"Nystagmus","level":2,"score":0.46861299872398376},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.455710232257843},{"id":"https://openalex.org/C2779012798","wikidata":"https://www.wikidata.org/wiki/Q117060","display_name":"Spasticity","level":2,"score":0.43746417760849},{"id":"https://openalex.org/C2779901536","wikidata":"https://www.wikidata.org/wiki/Q945238","display_name":"Peripheral neuropathy","level":3,"score":0.436681866645813},{"id":"https://openalex.org/C2776195251","wikidata":"https://www.wikidata.org/wiki/Q7573993","display_name":"Spastic","level":3,"score":0.4323856830596924},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2747293710708618},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.11897918581962585},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.09629368782043457},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.06498673558235168},{"id":"https://openalex.org/C2779421357","wikidata":"https://www.wikidata.org/wiki/Q210427","display_name":"Cerebral palsy","level":2,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1055/s-2006-945713","doi":"https://doi.org/10.1055/s-2006-945713","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2006-945713","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4411057553","https://openalex.org/W1968897548","https://openalex.org/W2130121551","https://openalex.org/W4389441476","https://openalex.org/W4389446826","https://openalex.org/W2035515136","https://openalex.org/W2125286257","https://openalex.org/W2069985609","https://openalex.org/W2151144087","https://openalex.org/W2032350648"],"abstract_inverted_index":{"Objectives:":[0],"To":[1],"screen":[2],"for":[3,78,122],"SACS":[4,47,138,234,261,280],"mutations":[5,277],"in":[6,25,29,107,112,148,157,161,179,186,196,204,210,223,247,269,278],"autosomal":[7,17],"recessive":[8,18],"spastic":[9,19],"ataxias.":[10],"Background:":[11],"A":[12],"form":[13],"of":[14,57,81,129,137,208,225,230,284],"early":[15,34],"onset":[16,166],"ataxia":[20,143,156],"has":[21,243],"been":[22,120,244],"originally":[23],"described":[24],"the":[26,54,65,130,134,188,194,218,266,270,279],"Charlevoix-Saguenay":[27],"area":[28],"Quebec":[30],"(ARSACS).":[31],"Features":[32],"include":[33],"onset,":[35],"ataxia,":[36],"spasticity,":[37],"nystagmus,":[38],"retinal":[39],"striation,":[40],"and":[41,76,94,133,159,206,241,273],"peripheral":[42],"neuropathy.":[43],"The":[44,70,151,282],"responsible":[45],"gene,":[46],",":[48],"maps":[49],"to":[50,124,217,293],"chromosome":[51],"13q11.":[52],"In":[53,228,251],"recent":[55],"versions":[56],"Genome":[58],"Project":[59],"gene":[60],"predictions,":[61],"eight":[62],"exons":[63,132],"upstream":[64],"original":[66],"ORF":[67,72],"are":[68,239],"indicated.":[69],"new":[71,240,258,276],"is":[73],"13.74":[74],"kb":[75],"encodes":[77],"a":[79,145,232,248,257,285],"protein":[80],"4579.":[82],"Methods:":[83],"Thirteen":[84],"patients":[85,118],"from":[86,90],"different":[87],"families":[88],"originating":[89],"North":[91],"Africa,":[92],"France":[93],"Italy":[95],"with":[96,287],"an":[97,288],"ARSACS-like":[98,289],"phenotype":[99,290],"were":[100,221],"studied.":[101],"Nerve":[102],"conduction":[103],"study":[104],"was":[105,110,139,144,154,167,177,184,236],"recorded":[106],"nine.":[108],"MRI":[109],"performed":[111],"all":[113],"but":[114],"one":[115,180,242,253],"case.":[116,181],"Seven":[117],"have":[119],"tested":[121],"linkage":[123,216],"13q11":[125],"locus.":[126],"Direct":[127],"sequencing":[128],"nine":[131],"intron-exon":[135],"boundaries":[136],"performed.":[140],"Results:":[141],"Spastic":[142],"constant":[146],"finding":[147],"our":[149],"cases.":[150],"initial":[152],"symptom":[153],"gait":[155],"eleven":[158],"spasticity":[160],"two.":[162,211],"Mean":[163],"age":[164,169],"at":[165,174],"around":[168],"5":[170],"years.":[171],"Retinal":[172],"striation":[173],"fundus":[175],"oculi":[176],"present":[178,185],"Cerebellar":[182],"atrophy":[183],"all,":[187,205],"vermis":[189],"being":[190],"more":[191],"involved":[192],"then":[193],"hemispheres":[195],"three.":[197],"Neurophysiological":[198],"studies":[199],"revealed":[200],"axonal":[201],"sensorimotor":[202],"neuropathy":[203],"signs":[207],"demyelination":[209],"Positive":[212],"lod":[213],"scores":[214],"suggesting":[215],"ARSACS":[219,267,294],"locus":[220,295],"found":[222],"six":[224],"seven":[226],"families.":[227],"three":[229,275],"them":[231],"homozygous":[233],"mutation":[235],"detected.":[237],"Two":[238],"already":[245],"reported":[246],"Tunisian":[249],"patient.":[250],"addition,":[252],"Italian":[254],"patient":[255],"carried":[256],"heterozygous":[259],"missense":[260],"mutation.":[262],"Conclusion:":[263],"We":[264],"confirm":[265],"presence":[268,283],"Mediterranean":[271],"basin":[272],"report":[274],"gene.":[281],"family":[286],"not":[291],"linked":[292],"suggests":[296],"genetic":[297],"heterogeneity.":[298]},"counts_by_year":[],"updated_date":"2026-10-07T09:51:55.459714","created_date":"2016-06-24T00:00:00"}
