{"id":"https://openalex.org/W2123597585","doi":"https://doi.org/10.1001/archneur.64.6.813","title":"Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients","display_name":"Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients","publication_year":2007,"publication_date":"2007-06-01","ids":{"openalex":"https://openalex.org/W2123597585","doi":"https://doi.org/10.1001/archneur.64.6.813","mag":"2123597585","pmid":"https://pubmed.ncbi.nlm.nih.gov/17562929"},"language":"en","primary_location":{"id":"doi:10.1001/archneur.64.6.813","doi":"https://doi.org/10.1001/archneur.64.6.813","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.64.6.813","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5064281919","display_name":"Pascale Riba\u0131\u0308","orcid":null,"observed_orcids":[]},"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":"Pascale Riba\u00ef","raw_affiliation_strings":["Department of Genetics, Cytogenetics and Embryology, Salp\u00eatri\u00e8re Hospital, 75013 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Cytogenetics and Embryology, Salp\u00eatri\u00e8re Hospital, 75013 Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045209670","display_name":"Karine Nguyen","orcid":"https://orcid.org/0000-0002-6889-3891","observed_orcids":["https://orcid.org/0000-0002-6889-3891"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karine Nguyen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074313873","display_name":"Val\u00e9rie Hahn\u2010Barma","orcid":"https://orcid.org/0000-0001-7538-2603","observed_orcids":["https://orcid.org/0000-0001-7538-2603"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Val\u00e9rie Hahn-Barma","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076280857","display_name":"Isabelle Gourfinkel\u2010An","orcid":"https://orcid.org/0000-0003-1917-904X","observed_orcids":["https://orcid.org/0000-0003-1917-904X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Isabelle Gourfinkel-An","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marie Vidailhet","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025076157","display_name":"A Legout","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Antoine Legout","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108222728","display_name":"Catherine Dod\u00e9","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Catherine Dod\u00e9","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexandra D\u00fcrr","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.1287,"has_fulltext":false,"cited_by_count":137,"citation_normalized_percentile":{"value":0.86031042,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":99},"biblio":{"volume":"64","issue":"6","first_page":"813","last_page":"813"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":1.0,"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":1.0,"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.0,"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/juvenile-huntington-disease","display_name":"juvenile Huntington disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.9380000233650208},{"id":"https://openalex.org/keywords/psychiatric-symptoms","display_name":"psychiatric symptoms","score":0.6579999923706055},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.9169999957084656},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.6890000104904175},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.9520000219345093},{"id":"https://openalex.org/keywords/mother-to-child-transmission","display_name":"mother-to-child transmission","score":0.5879999995231628},{"id":"https://openalex.org/keywords/paternal-transmission","display_name":"paternal transmission","score":0.7599999904632568},{"id":"https://openalex.org/keywords/genetic-anticipation","display_name":"genetic anticipation","score":0.6840000152587891},{"id":"https://openalex.org/keywords/misdiagnosis","display_name":"misdiagnosis","score":0.5690000057220459},{"id":"https://openalex.org/keywords/cerebellar-atrophy","display_name":"cerebellar atrophy","score":0.7450000047683716},{"id":"https://openalex.org/keywords/substance-addiction","display_name":"substance addiction","score":0.6610000133514404},{"id":"https://openalex.org/keywords/anosognosia","display_name":"anosognosia","score":0.656000018119812},{"id":"https://openalex.org/keywords/suicide-attempts","display_name":"suicide attempts","score":0.5},{"id":"https://openalex.org/keywords/neuropsychological-assessment","display_name":"neuropsychological assessment","score":0.42399999499320984}],"concepts":[{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.7255138158798218},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6433465480804443},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5318856835365295},{"id":"https://openalex.org/C2780647506","wikidata":"https://www.wikidata.org/wiki/Q190564","display_name":"Huntington's disease","level":3,"score":0.5209568738937378},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.495418906211853},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.43464386463165283},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3621160387992859},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.25649139285087585}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001284","descriptor_name":"Atrophy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001523","descriptor_name":"Mental Disorders","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D001523","descriptor_name":"Mental Disorders","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D005220","descriptor_name":"Fathers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009069","descriptor_name":"Movement Disorders","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018911","descriptor_name":"Trinucleotide Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1001/archneur.64.6.813","doi":"https://doi.org/10.1001/archneur.64.6.813","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.64.6.813","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},{"id":"pmid:17562929","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17562929","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1713405122","https://openalex.org/W1964328933","https://openalex.org/W1993191686","https://openalex.org/W1994285647","https://openalex.org/W2010373677","https://openalex.org/W2029638099","https://openalex.org/W2041193153","https://openalex.org/W2060191653","https://openalex.org/W2066792880","https://openalex.org/W2072212603","https://openalex.org/W2075724831","https://openalex.org/W2080349532","https://openalex.org/W2086237516","https://openalex.org/W2098123284","https://openalex.org/W2099356023","https://openalex.org/W2110807036","https://openalex.org/W2114554944","https://openalex.org/W2129820507","https://openalex.org/W2138236521","https://openalex.org/W2145598776","https://openalex.org/W2163001824"],"related_works":["https://openalex.org/W7124738510","https://openalex.org/W3190625055","https://openalex.org/W4395677126","https://openalex.org/W2560073640","https://openalex.org/W7215713280","https://openalex.org/W2937338637","https://openalex.org/W2765487698","https://openalex.org/W4387186119","https://openalex.org/W4310086944","https://openalex.org/W1613001930"],"abstract_inverted_index":{"BACKGROUND:":[0],"Juvenile":[1],"Huntington":[2,33],"disease":[3,34,39,266,320],"(JHD)":[4],"is":[5,40,52,69],"a":[6,341],"rare":[7],"clinical":[8,90,98],"entity":[9],"characterized":[10],"by":[11],"an":[12,23,127],"age":[13,49,74,122,286],"at":[14,50,75,107,121,156,173,231,287],"onset":[15,51,61,118,157,174,288],"younger":[16],"than":[17,27,256,352],"20":[18,123],"years.":[19],"Patients":[20,315],"usually":[21,41,70],"have":[22],"expansion":[24,131],"of":[25,59,65,94,165,217,223,238,246,250,261,344,350],"more":[26],"60":[28,257,353],"CAG":[29,129,258,354],"repeats":[30,355],"in":[31,56,82,132,179,188,192,197,236,244,305,338,359],"the":[32,38,44,89,133,221,224,265],"(HD)":[35],"gene,":[36],"and":[37,62,86,91,99,161,194,285,327,348,362],"inherited":[42,264],"from":[43,267],"father.":[45,269],"In":[46],"general,":[47],"precise":[48],"difficult":[53],"to":[54,72,87,332],"assess":[55],"HD":[57,106,116,134,218],"because":[58],"insidious":[60],"anosognosia.":[63],"Onset":[64],"motor":[66],"difficulty":[67,195],"signs":[68,155,172,204,215],"used":[71],"define":[73],"onset.":[76],"OBJECTIVES:":[77],"To":[78],"evaluate":[79],"diagnosis":[80,143,335],"delay":[81,141],"patients":[83,114,251,263,306],"with":[84,115,117,206,230,252,307,310,316],"JHD":[85,253,317],"analyze":[88],"genetic":[92,100],"features":[93],"JHD.":[95],"DESIGN:":[96],"Retrospective":[97],"review.":[101],"SETTING:":[102],"Referral":[103],"center":[104],"for":[105],"Salp\u00eatri\u00e8re":[108],"Hospital,":[109],"Paris,":[110],"France.":[111],"PATIENTS:":[112],"Twenty-nine":[113],"before":[119,142,214],"or":[120,185,334],"years":[124,148],"who":[125],"carried":[126],"abnormal":[128],"repeat":[130],"gene.":[135],"RESULTS:":[136],"The":[137,152],"mean":[138],"+/-":[139,146,272,275,279,290,293,297],"SD":[140],"was":[144,169,242,303],"9":[145,276],"6":[147,260],"(range,":[149],"0-21":[150],"years).":[151],"most":[153],"remarkable":[154],"were":[158,228,356],"severe":[159,182],"psychiatric":[160,226,326],"cognitive":[162,328],"disturbances":[163,227],"(19":[164],"29":[166,239],"[65.5%]);":[167],"rigidity":[168],"absent.":[170],"Unusual":[171],"included":[175],"myoclonic":[176],"head":[177],"tremor":[178],"3":[180],"patients,":[181],"isolated":[183],"drug":[184],"alcohol":[186],"addiction":[187],"2,":[189],"psychotic":[190],"disorder":[191],"1,":[193],"writing":[196],"1.":[198],"One":[199],"patient":[200],"had":[201,254],"progressive":[202],"cerebellar":[203,207],"associated":[205],"atrophy":[208],"on":[209],"cerebral":[210],"magnetic":[211],"resonance":[212],"imaging":[213],"suggestive":[216],"appeared.":[219],"During":[220],"course":[222],"disease,":[225],"severe,":[229],"least":[232],"1":[233],"suicide":[234],"attempt":[235],"7":[237],"patients.":[240,247],"Transmission":[241],"maternal":[243,308],"25%":[245],"Forty-six":[248],"percent":[249],"fewer":[255,351],"repeats;":[259],"these":[262],"their":[268],"Anticipation":[270],"(mean":[271,289],"SD,":[273,291],"18":[274],"vs":[277,295],"25":[278],"11":[280],"years;":[281,299],"P":[282,300],"=":[283,301],".27)":[284],"17.14":[292],"2.2":[294],"13.29":[296],"5.5":[298],".09)":[302],"similar":[304],"compared":[309],"paternal":[311],"transmission,":[312],"respectively.":[313],"CONCLUSIONS:":[314],"started":[318],"showing":[319],"symptoms":[321],"through":[322],"nonspecific":[323],"features,":[324],"mostly":[325],"difficulties.":[329],"This":[330],"led":[331],"misdiagnosis":[333],"delay,":[336],"especially":[337],"cases":[339],"without":[340],"familial":[342],"history":[343],"HD.":[345],"Maternal":[346],"transmissions":[347],"expansions":[349],"unexpectedly":[357],"frequent":[358],"this":[360],"series":[361],"should":[363],"not":[364],"be":[365],"considered":[366],"exceptional.":[367]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":10},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":13},{"year":2012,"cited_by_count":12}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
