{"id":"https://openalex.org/W45963565","doi":"https://doi.org/10.1212/wnl.80.7_supplement.s20.006","title":"FXTAS: New Insights and the Need for Revised Diagnostic Criteria (S20.006)","display_name":"FXTAS: New Insights and the Need for Revised Diagnostic Criteria (S20.006)","publication_year":2013,"publication_date":"2013-02-12","ids":{"openalex":"https://openalex.org/W45963565","doi":"https://doi.org/10.1212/wnl.80.7_supplement.s20.006","mag":"45963565"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.80.7_supplement.s20.006","doi":"https://doi.org/10.1212/wnl.80.7_supplement.s20.006","is_oa":false,"landing_page_url":"http://dx.doi.org/10.1212/wnl.80.7_supplement.s20.006","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","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/A5087613307","display_name":"Mathieu Anheim","orcid":"https://orcid.org/0000-0001-8121-0605","observed_orcids":["https://orcid.org/0000-0001-8121-0605"]},"institutions":[{"id":"https://openalex.org/I4210145324","display_name":"H\u00f4pitaux Universitaires de Strasbourg","ror":"https://ror.org/04bckew43","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mathieu Anheim","raw_affiliation_strings":["CHU de Strasbourg Strasbourg France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU de Strasbourg Strasbourg France","institution_ids":["https://openalex.org/I4210145324"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029021584","display_name":"Emmanuelle Apartis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Emmanuelle Apartis","raw_affiliation_strings":["Ho\u0302pital Saint Antoine Antony  France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ho\u0302pital Saint Antoine Antony  France","institution_ids":["https://openalex.org/I4210102928"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082848036","display_name":"Anne Blancher","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Anne Blancher","raw_affiliation_strings":["Service de neurophysiologie Ho\u0302pital Saint Antoine Paris  France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de neurophysiologie Ho\u0302pital Saint Antoine Paris  France","institution_ids":["https://openalex.org/I4210102928"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089727621","display_name":"Wassilios G. Meissner","orcid":"https://orcid.org/0000-0003-2172-7527","observed_orcids":["https://orcid.org/0000-0003-2172-7527"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wassilios Meissner","raw_affiliation_strings":["Service de Neurologie Bordeaux France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie Bordeaux France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085252034","display_name":"David Malt\u00eate","orcid":"https://orcid.org/0000-0002-5246-3379","observed_orcids":["https://orcid.org/0000-0002-5246-3379"]},"institutions":[{"id":"https://openalex.org/I4210154623","display_name":"Centre Hospitalier Universitaire de Rouen","ror":"https://ror.org/04cdk4t75","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210154623"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"David Maltete","raw_affiliation_strings":["CHU de Rouen Rouen France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU de Rouen Rouen France","institution_ids":["https://openalex.org/I4210154623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108424508","display_name":"Lucie Guyant\u2010Mar\u00e9chal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210154623","display_name":"Centre Hospitalier Universitaire de Rouen","ror":"https://ror.org/04cdk4t75","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210154623"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Lucie Guyant-Marchal","raw_affiliation_strings":["CHU de Rouen Rouen France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU de Rouen Rouen France","institution_ids":["https://openalex.org/I4210154623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034341014","display_name":"St\u00e9phane Thobois","orcid":"https://orcid.org/0000-0002-9639-6702","observed_orcids":["https://orcid.org/0000-0002-9639-6702"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stephane Thobois","raw_affiliation_strings":["CHU de Lyon Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU de Lyon Lyon France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012467971","display_name":"T. de Broucker","orcid":"https://orcid.org/0000-0001-5354-4173","observed_orcids":["https://orcid.org/0000-0001-5354-4173"]},"institutions":[{"id":"https://openalex.org/I4210146199","display_name":"Centre Hospitalier Saint-Denis","ror":"https://ror.org/05ed8xr15","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210146199"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Thomas De Broucker","raw_affiliation_strings":["Ho\u0302pital de Saint Denis Saint Denis, Cedex  France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ho\u0302pital de Saint Denis Saint Denis, Cedex  France","institution_ids":["https://openalex.org/I4210146199"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113635827","display_name":"Pierre Pollak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Pierre Pollak","raw_affiliation_strings":["HUG Gene\u0300ve  Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"HUG Gene\u0300ve  Switzerland","institution_ids":["https://openalex.org/I4210106256"]}]},{"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/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"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexandra Durr","raw_affiliation_strings":["Ho\u0302pital Pitie\u0301 Salpe\u0302trie\u0300re Paris  France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ho\u0302pital Pitie\u0301 Salpe\u0302trie\u0300re Paris  France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010835736","display_name":"Marie Vidailhet","orcid":"https://orcid.org/0000-0002-2409-9143","observed_orcids":["https://orcid.org/0000-0002-2409-9143"]},"institutions":[{"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"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie Vidailhet","raw_affiliation_strings":["Ho\u0302pital Pitie\u0301 Salpe\u0302trie\u0300re Paris  France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ho\u0302pital Pitie\u0301 Salpe\u0302trie\u0300re Paris  France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"last","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/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"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["Ho\u0302pital Pitie\u0301 Salpe\u0302trie\u0300re Paris  France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ho\u0302pital Pitie\u0301 Salpe\u0302trie\u0300re Paris  France","institution_ids":["https://openalex.org/I4210121705"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"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":0.00174973,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"80","issue":"7_supplement","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":0.8300999999046326,"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":0.8300999999046326,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.07109999656677246,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.04320000112056732,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-associated-tremor-ataxia-syndrome","display_name":"fragile X-associated tremor/ataxia syndrome","score":0.9359999895095825},{"id":"https://openalex.org/keywords/diagnostic-criteria","display_name":"diagnostic criteria","score":0.7599999904632568},{"id":"https://openalex.org/keywords/neurophysiology","display_name":"neurophysiology","score":0.6000000238418579},{"id":"https://openalex.org/keywords/brain-structure","display_name":"brain structure","score":0.6269999742507935},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.6389999985694885},{"id":"https://openalex.org/keywords/fmr1-premutation","display_name":"fragile X premutation","score":0.7519999742507935}],"concepts":[{"id":"https://openalex.org/C146638467","wikidata":"https://www.wikidata.org/wiki/Q10529587","display_name":"Hyperintensity","level":3,"score":0.7864828705787659},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6900250911712646},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5451712608337402},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.5108391642570496},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.41520217061042786},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3924652934074402},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.26680201292037964},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.23562827706336975},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.21962633728981018},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.1819530427455902},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.16397124528884888}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1212/wnl.80.7_supplement.s20.006","doi":"https://doi.org/10.1212/wnl.80.7_supplement.s20.006","is_oa":false,"landing_page_url":"http://dx.doi.org/10.1212/wnl.80.7_supplement.s20.006","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2072672031","https://openalex.org/W7074224001","https://openalex.org/W1853773933","https://openalex.org/W2068195646","https://openalex.org/W2122033671","https://openalex.org/W2108135904","https://openalex.org/W2000080960","https://openalex.org/W2523247910","https://openalex.org/W1997578140","https://openalex.org/W4200232200"],"abstract_inverted_index":{"OBJECTIVE:":[0],"We":[1,95,192],"delineate":[2],"the":[3,168,197,221,247,260],"clinical,":[4],"neurophysiologic":[5,46],"and":[6,27,45,91,105,115,141,160,170,180,204,207,215,253],"morphologic":[7,40],"characteristics":[8],"of":[9,35,64,66,72,85,87,112,137,172,186,223,240,249],"Fragile":[10],"X-associated":[11],"Tremor":[12],"Ataxia":[13],"Syndrome":[14],"(FXTAS).":[15],"BACKGROUND:":[16],"FXTAS":[17,57,81,198,225],"is":[18],"defined":[19],"by":[20],"FMR1":[21],"premutation,":[22],"cerebellar":[23,29,103],"ataxia,":[24],"intentional":[25],"tremor":[26,90,99],"middle":[28],"peduncle":[30],"(MCP)":[31],"hyperintensities.":[32],"DESIGN/METHODS:":[33],"Description":[34],"a":[36,184],"multicentric":[37],"series.":[38,82],"Clinical,":[39],"(brain":[41],"MRI,":[42],"123I-ioflupane":[43,144,157],"SPECT)":[44],"(tremor":[47],"recording,":[48],"nerve":[49],"conduction":[50],"studies)":[51],"study":[52,245],"in":[53,196,230,256],"22":[54],"patients":[55,67,88,138],"with":[56,79,175,329],"including":[58],"4":[59],"women.":[60],"RESULTS:":[61],"A":[62,83],"total":[63,84],"43%":[65],"had":[68,89,139],"no":[69],"family":[70,238],"history":[71,239],"fragile":[73],"X":[74],"syndrome":[75],"(FXS)":[76],"which":[77],"contrasts":[78],"previous":[80],"86%":[86],"81%":[92],"peripheral":[93,205,251],"neuropathy.":[94],"identified":[96],"3":[97],"electroclinical":[98],"patterns:":[100],"essential-like":[101],"(35%),":[102],"(29%)":[104],"parkinsonian":[106],"(12%).":[107],"Two":[108],"electrophysiologic":[109],"patterns":[110],"evocative":[111],"non-length-dependent":[113],"(56%)":[114],"length-dependent":[116],"sensory":[117],"neuropathy":[118,206,252],"(25%)":[119],"were":[120],"identified.":[121],"Corpus":[122],"callosum":[123],"splenium":[124],"(CCS)":[125],"hyperintensity":[126,182,203],"was":[127,153,183],"as":[128,131,211],"frequent":[129],"(68%)":[130],"MCP":[132,235],"hyperintensities":[133,178,236],"(64%).":[134],"Sixty":[135],"percent":[136],"parkinsonism":[140],"47%":[142],"abnormal":[143,156],"SPECT.":[145],"Unified":[146],"Parkinson's":[147],"disease":[148,188],"rating":[149,171],"scale":[150],"motor":[151],"score":[152],"correlated":[154,174],"to":[155,161,194,208,270,276,282,288,294,300,306,313,319,336,342],"SPECT":[158],"(p=0.02)":[159],"CGG":[162],"repeat":[163],"number":[164],"(p=0.0004).":[165],"Scale":[166],"for":[167,220,262,327],"assessment":[169],"ataxia":[173],"dentate":[176],"nuclei":[177],"(p=0.03)":[179],"CCS":[181,202],"marker":[185],"severe":[187],"progression":[189],"(p=0.04).":[190],"CONCLUSIONS:":[191],"recommend":[193],"include":[195],"testing":[199],"guidelines":[200],"both":[201],"consider":[209],"them":[210],"new":[212],"major":[213],"radiologic":[214],"minor":[216],"clinical":[217],"criterion,":[218],"respectively,":[219],"diagnosis":[222],"FXTAS.":[224],"should":[226],"also":[227],"be":[228],"considered":[229],"women":[231],"or":[232,237],"when":[233],"tremor,":[234,250],"FXS":[241],"are":[242],"lacking.":[243],"Our":[244],"broadens":[246],"spectrum":[248],"MRI":[254],"abnormalities":[255],"FXTAS,":[257],"hence":[258],"reveals":[259],"need":[261],"revised":[263],"criteria.":[264],"Disclosure:":[265],"Dr.":[266,272,278,284,290,296,302,308,315,321,332,338],"Anheim":[267],"has":[268,274,280,286,292,298,304,311,317,323,334,340],"nothing":[269,275,281,287,293,299,305,312,318,335,341],"disclose.":[271,277,283,289,295,301,307,314,320,337,343],"Apartis":[273],"Blancher":[279],"Meissner":[285],"Maltete":[291],"Guyant-Marchal":[297],"Thobois":[303],"De":[309],"Broucker":[310],"Pollak":[316],"Durr":[322],"received":[324],"personal":[325],"compensation":[326],"activities":[328],"Pfizer,":[330],"Inc.":[331],"Vidailhet":[333],"Brice":[339]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}
