{"id":"https://openalex.org/W3022352240","doi":"https://doi.org/10.1136/jnnp-2018-ehdn.178","title":"G05 High penetrance and frequent severe psychiatric manifestations in patients with 36\u201338 cag HTT repeats","display_name":"G05 High penetrance and frequent severe psychiatric manifestations in patients with 36\u201338 cag HTT repeats","publication_year":2018,"publication_date":"2018-09-01","ids":{"openalex":"https://openalex.org/W3022352240","doi":"https://doi.org/10.1136/jnnp-2018-ehdn.178","mag":"3022352240"},"language":"en","primary_location":{"id":"doi:10.1136/jnnp-2018-ehdn.178","doi":"https://doi.org/10.1136/jnnp-2018-ehdn.178","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jnnp-2018-ehdn.178","pdf_url":null,"source":{"id":"https://openalex.org/S134773490","display_name":"Journal of Neurology Neurosurgery & Psychiatry","issn_l":"0022-3050","issn":["0022-3050","1468-330X"],"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/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic testing and counselling","raw_type":"proceedings-article"},"volume":null,"type":"conference-abstract","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/A5066260912","display_name":"Enrica Marchionni","orcid":"https://orcid.org/0000-0002-0341-6461","observed_orcids":["https://orcid.org/0000-0002-0341-6461"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"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":"Enrica Marchionni","raw_affiliation_strings":["AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076646071","display_name":"Marie\u2010Lorraine Monin","orcid":"https://orcid.org/0000-0002-0116-036X","observed_orcids":["https://orcid.org/0000-0002-0116-036X"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"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/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"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/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie-Lorraine Monin","raw_affiliation_strings":["AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075986434","display_name":"Sabrina Sayah","orcid":"https://orcid.org/0000-0002-0382-9995","observed_orcids":["https://orcid.org/0000-0002-0382-9995"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"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/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sabrina Sayah","raw_affiliation_strings":["Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]},{"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/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"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/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"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/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084340584","display_name":"Perrine Charles","orcid":"https://orcid.org/0000-0002-3108-2171","observed_orcids":["https://orcid.org/0000-0002-3108-2171"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"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":"Perrine Charles","raw_affiliation_strings":["AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"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":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"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/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"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/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexandra Durr","raw_affiliation_strings":["AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"A67.1","last_page":"A67"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"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":0.9994999766349792,"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":"Neurological disorders and treatments","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"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/T11335","display_name":"Prion Diseases and Protein Misfolding","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/huntington-s-disease","display_name":"Huntington's disease","score":0.9380000233650208},{"id":"https://openalex.org/keywords/htt-gene","display_name":"HTT gene","score":0.8650000095367432},{"id":"https://openalex.org/keywords/psychiatric-symptoms","display_name":"psychiatric symptoms","score":0.7120000123977661},{"id":"https://openalex.org/keywords/depression","display_name":"depression","score":0.8109999895095825},{"id":"https://openalex.org/keywords/suicide-attempts","display_name":"suicide attempts","score":0.8579999804496765},{"id":"https://openalex.org/keywords/aggression","display_name":"aggression","score":0.5590000152587891},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.7730000019073486},{"id":"https://openalex.org/keywords/executive-dysfunction","display_name":"executive dysfunction","score":0.8859999775886536},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.8379999995231628},{"id":"https://openalex.org/keywords/motor-symptoms","display_name":"motor symptoms","score":0.5920000076293945},{"id":"https://openalex.org/keywords/chorea","display_name":"chorea","score":0.5920000076293945},{"id":"https://openalex.org/keywords/dystonia","display_name":"dystonia","score":0.9829999804496765},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.6779999732971191},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6470000147819519},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.4429999887943268}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.8285669088363647},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5975425243377686},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5151016116142273},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.5030784010887146},{"id":"https://openalex.org/C2776867660","wikidata":"https://www.wikidata.org/wiki/Q1814941","display_name":"Depression (economics)","level":2,"score":0.4917471706867218},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4784550666809082},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.46959343552589417},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.4582774341106415},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.4187431037425995},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.38844630122184753},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.32181936502456665},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3149486184120178},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.21788570284843445},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.16580510139465332},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.14611545205116272},{"id":"https://openalex.org/C139719470","wikidata":"https://www.wikidata.org/wiki/Q39680","display_name":"Macroeconomics","level":1,"score":0.0},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1136/jnnp-2018-ehdn.178","doi":"https://doi.org/10.1136/jnnp-2018-ehdn.178","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jnnp-2018-ehdn.178","pdf_url":null,"source":{"id":"https://openalex.org/S134773490","display_name":"Journal of Neurology Neurosurgery & Psychiatry","issn_l":"0022-3050","issn":["0022-3050","1468-330X"],"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/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic testing and counselling","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"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/W2944982216","https://openalex.org/W4295260945","https://openalex.org/W4402374658","https://openalex.org/W3014100482","https://openalex.org/W3119312944","https://openalex.org/W2558103835","https://openalex.org/W2560457782","https://openalex.org/W3196638352","https://openalex.org/W4417439306","https://openalex.org/W4379769145"],"abstract_inverted_index":{"Background":[0],"HTT":[1,228],"alleles":[2,120,225],"with":[3,17,37,118,202],"a":[4,90,132],"CAG":[5,40],"repeat":[6,41],"length":[7],"of":[8,20,35,43,71,80,93,116,135,217],"36\u201338":[9,44],"are":[10],"rare":[11],"and":[12,27,51,78,161,190,214,223],"known":[13],"to":[14,197],"be":[15,233],"associated":[16],"reduced":[18],"penetrance":[19],"Huntington":[21,94],"disease,":[22,95],"later":[23],"age":[24,79,104,134,140],"at":[25,61,105,131,141],"onset":[26,81,142],"milder":[28,199],"evolution.":[29],"Aims":[30],"Report":[31],"the":[32,58,62,198,211,227],"clinical":[33,122],"presentation":[34],"patients":[36,48,88,220],"an":[38],"intermediate":[39,119,203,224],"size":[42],"CAG.":[45],"Methods/techniques":[46],"Twenty\u2013eight":[47],"(18":[49],"women":[50],"10":[52],"men)":[53],"have":[54],"been":[55],"seen":[56],"in":[57,154,187,195,226,237],"genetic":[59,238],"department":[60],"Piti\u00e9-Salp\u00eatri\u00e8re":[63],"University":[64],"Hospital.":[65],"Familial":[66],"history,":[67],"parental":[68],"inheritance,":[69],"presence":[70],"symptoms":[72,169,186,218],"(psychiatric":[73],"and/or":[74,76],"cognitive":[75,185],"motors)":[77],"were":[82,127,151],"collected.":[83],"Results/outcome":[84],"All":[85],"but":[86],"three":[87],"had":[89],"familial":[91],"history":[92],"17":[96],"maternally":[97],"inherited,":[98],"7":[99],"paternally":[100],"inherited.":[101],"The":[102,124,207],"mean":[103,133],"first":[106,148],"contact":[107],"was":[108,143,210],"55.6\u00b112.7":[109],"years":[110,137,145],"[24\u201390].":[111,138],"Sixty":[112],"four":[113],"percent":[114],"(18/28)":[115],"individuals":[117],"presented":[121,166,184],"signs.":[123],"others":[125],"(10/28)":[126],"not":[128],"clinically":[129],"affected":[130],"50.1\u00b120.8":[136],"Mean":[139],"52.3\u00b18.4":[144],"[40\u201366].":[146],"At":[147],"examination,":[149],"there":[150],"motor":[152],"signs":[153],"most":[155],"(83%,":[156],"15/18)":[157],"patients,":[158],"including":[159],"chorea":[160],"dystonia.":[162],"Interestingly,":[163],"72%":[164],"(13/18)":[165],"severe":[167],"psychiatric":[168],"such":[170],"as":[171],"depression,":[172],"suicide":[173],"attempts,":[174],"aggressiveness,":[175],"23%":[176],"(3/13)":[177],"requiring":[178],"hospitalization.":[179],"Even":[180],"more,":[181],"78%":[182],"(14/18)":[183],"particular":[188],"dysexecutive":[189],"attention":[191],"impairments.":[192],"This":[193,231],"is":[194],"contrast":[196],"phenotype":[200],"expected":[201],"allele":[204],"sizes.":[205],"Conclusions":[206],"major":[208],"finding":[209],"unexpected":[212],"proportion":[213],"high":[215],"severity":[216],"among":[219],"carrying":[221],"small":[222],"gene":[229],"(36\u201338).":[230],"should":[232],"taken":[234],"into":[235],"account":[236],"counselling.":[239]},"counts_by_year":[],"updated_date":"2026-11-02T09:45:03.842371","created_date":"2020-05-13T00:00:00"}