{"id":"https://openalex.org/W7125425934","doi":"https://doi.org/10.1177/18796397251411109","title":"Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review","display_name":"Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review","publication_year":2026,"publication_date":"2026-01-21","ids":{"openalex":"https://openalex.org/W7125425934","doi":"https://doi.org/10.1177/18796397251411109","pmid":"https://pubmed.ncbi.nlm.nih.gov/41564273"},"language":"en","primary_location":{"id":"doi:10.1177/18796397251411109","doi":"https://doi.org/10.1177/18796397251411109","is_oa":true,"landing_page_url":"https://doi.org/10.1177/18796397251411109","pdf_url":"https://journals.sagepub.com/history/be951f49-c1d0-4fde-8325-efc4dd68b0da/18796397251411109.33366670.pdf","source":{"id":"https://openalex.org/S2764536931","display_name":"Journal of Huntington s Disease","issn_l":"1879-6397","issn":["1879-6397","1879-6400"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Huntington's Disease","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://journals.sagepub.com/history/be951f49-c1d0-4fde-8325-efc4dd68b0da/18796397251411109.33366670.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5123550596","display_name":"Katharina Hoffmann","orcid":"https://orcid.org/0009-0008-0832-8111","observed_orcids":["https://orcid.org/0009-0008-0832-8111"]},"institutions":[{"id":"https://openalex.org/I114017466","display_name":"University of Technology Sydney","ror":"https://ror.org/03f0f6041","country_code":"AU","type":"education","lineage":["https://openalex.org/I114017466"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Katharina Hoffmann","raw_affiliation_strings":["University of Technology Sydney"],"raw_orcid":"https://orcid.org/0009-0008-0832-8111","affiliations":[{"raw_affiliation_string":"University of Technology Sydney","institution_ids":["https://openalex.org/I114017466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072320341","display_name":"Stephanie White","orcid":"https://orcid.org/0000-0002-5550-6397","observed_orcids":["https://orcid.org/0000-0002-5550-6397"]},"institutions":[{"id":"https://openalex.org/I114017466","display_name":"University of Technology Sydney","ror":"https://ror.org/03f0f6041","country_code":"AU","type":"education","lineage":["https://openalex.org/I114017466"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Stephanie White","raw_affiliation_strings":["University of Technology Sydney"],"raw_orcid":"https://orcid.org/0000-0002-5550-6397","affiliations":[{"raw_affiliation_string":"University of Technology Sydney","institution_ids":["https://openalex.org/I114017466"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084565984","display_name":"Adrienne Sexton","orcid":"https://orcid.org/0000-0001-8749-1639","observed_orcids":["https://orcid.org/0000-0001-8749-1639"]},"institutions":[{"id":"https://openalex.org/I1320473756","display_name":"The Royal Melbourne Hospital","ror":"https://ror.org/005bvs909","country_code":"AU","type":"funder","lineage":["https://openalex.org/I1320473756","https://openalex.org/I4210158168"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Adrienne Sexton","raw_affiliation_strings":["Department of Medicine-RMH, The University of Melbourne, Parkville, VIC, Australia","Genetic Counselling Service, Epworth Freemasons, East Melbourne VIC, Australia","The Royal Melbourne Hospital and Peter MacCallum Cancer Institute"],"raw_orcid":"https://orcid.org/0000-0001-8749-1639","affiliations":[{"raw_affiliation_string":"Department of Medicine-RMH, The University of Melbourne, Parkville, VIC, Australia","institution_ids":["https://openalex.org/I1320473756","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Genetic Counselling Service, Epworth Freemasons, East Melbourne VIC, Australia","institution_ids":[]},{"raw_affiliation_string":"The Royal Melbourne Hospital and Peter MacCallum Cancer Institute","institution_ids":["https://openalex.org/I1320473756","https://openalex.org/I2800555584"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5123550596"],"corresponding_institution_ids":["https://openalex.org/I114017466"],"apc_list":{"value":4150,"currency":"USD","value_usd":4150},"apc_paid":{"value":4150,"currency":"USD","value_usd":4150},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.03238866,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"15","issue":"3","first_page":"293","last_page":"316"},"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.7689999938011169},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.996999979019165},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.6890000104904175},{"id":"https://openalex.org/keywords/patient-experience","display_name":"patient experience","score":0.9480000138282776},{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":0.8220000267028809},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.8730000257492065},{"id":"https://openalex.org/keywords/psychiatric-symptoms","display_name":"psychiatric symptoms","score":0.7919999957084656},{"id":"https://openalex.org/keywords/family-history-medicine","display_name":"family history (medicine)","score":0.7120000123977661},{"id":"https://openalex.org/keywords/african-ancestry","display_name":"African ancestry","score":0.8360000252723694}],"concepts":[{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.7447999715805054},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6466000080108643},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6140999794006348},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6031000018119812},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.47440001368522644},{"id":"https://openalex.org/C3020000205","wikidata":"https://www.wikidata.org/wiki/Q2412849","display_name":"Narrative review","level":2,"score":0.45419999957084656},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.39089998602867126},{"id":"https://openalex.org/C134534832","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Predictive testing","level":3,"score":0.36800000071525574},{"id":"https://openalex.org/C3019806175","wikidata":"https://www.wikidata.org/wiki/Q11974939","display_name":"Health professionals","level":3,"score":0.328900009393692},{"id":"https://openalex.org/C206345919","wikidata":"https://www.wikidata.org/wiki/Q20380951","display_name":"Resource (disambiguation)","level":2,"score":0.3280999958515167},{"id":"https://openalex.org/C70410870","wikidata":"https://www.wikidata.org/wiki/Q199906","display_name":"Clinical psychology","level":1,"score":0.32010000944137573},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.3190999925136566},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3077999949455261},{"id":"https://openalex.org/C2989236134","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Patient care","level":2,"score":0.298799991607666},{"id":"https://openalex.org/C2777267654","wikidata":"https://www.wikidata.org/wiki/Q3519023","display_name":"Test (biology)","level":2,"score":0.2971000075340271},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.29600000381469727},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.29350000619888306},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.29109999537467957},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.2897000014781952},{"id":"https://openalex.org/C199033989","wikidata":"https://www.wikidata.org/wiki/Q1318295","display_name":"Narrative","level":2,"score":0.28380000591278076},{"id":"https://openalex.org/C190248442","wikidata":"https://www.wikidata.org/wiki/Q839486","display_name":"Qualitative research","level":2,"score":0.2797999978065491},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.2696000039577484},{"id":"https://openalex.org/C2993807623","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genetic data","level":3,"score":0.2689000070095062},{"id":"https://openalex.org/C82157600","wikidata":"https://www.wikidata.org/wiki/Q2671652","display_name":"Diagnostic test","level":2,"score":0.2669000029563904},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.25290000438690186}],"mesh":[{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D002819","descriptor_name":"Chorea","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"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":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D020271","descriptor_name":"Heredodegenerative Disorders, Nervous System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1177/18796397251411109","doi":"https://doi.org/10.1177/18796397251411109","is_oa":true,"landing_page_url":"https://doi.org/10.1177/18796397251411109","pdf_url":"https://journals.sagepub.com/history/be951f49-c1d0-4fde-8325-efc4dd68b0da/18796397251411109.33366670.pdf","source":{"id":"https://openalex.org/S2764536931","display_name":"Journal of Huntington s Disease","issn_l":"1879-6397","issn":["1879-6397","1879-6400"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Huntington's Disease","raw_type":"journal-article"},{"id":"pmid:41564273","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41564273","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":"Journal of Huntington's disease","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13396421","doi":null,"is_oa":true,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41564273/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J Huntingtons Dis","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1177/18796397251411109","doi":"https://doi.org/10.1177/18796397251411109","is_oa":true,"landing_page_url":"https://doi.org/10.1177/18796397251411109","pdf_url":"https://journals.sagepub.com/history/be951f49-c1d0-4fde-8325-efc4dd68b0da/18796397251411109.33366670.pdf","source":{"id":"https://openalex.org/S2764536931","display_name":"Journal of Huntington s Disease","issn_l":"1879-6397","issn":["1879-6397","1879-6400"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Huntington's Disease","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Systematic Review","id":"https://openalex.org/study-designs/systematic-review"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7125425934.pdf","grobid_xml":"https://content.openalex.org/works/W7125425934.grobid-xml"},"referenced_works_count":83,"referenced_works":["https://openalex.org/W331667083","https://openalex.org/W1518760113","https://openalex.org/W1529439802","https://openalex.org/W1973357479","https://openalex.org/W1982945967","https://openalex.org/W1987022943","https://openalex.org/W1988433634","https://openalex.org/W1993392157","https://openalex.org/W2004244315","https://openalex.org/W2013422907","https://openalex.org/W2013616286","https://openalex.org/W2029989442","https://openalex.org/W2030616872","https://openalex.org/W2031331313","https://openalex.org/W2063833659","https://openalex.org/W2073655438","https://openalex.org/W2092877753","https://openalex.org/W2095219674","https://openalex.org/W2096266245","https://openalex.org/W2106711789","https://openalex.org/W2123900946","https://openalex.org/W2129611261","https://openalex.org/W2131685833","https://openalex.org/W2132343618","https://openalex.org/W2138506733","https://openalex.org/W2140592306","https://openalex.org/W2140657325","https://openalex.org/W2149194766","https://openalex.org/W2153168932","https://openalex.org/W2159491941","https://openalex.org/W2216386872","https://openalex.org/W2280935350","https://openalex.org/W2316748172","https://openalex.org/W2324207353","https://openalex.org/W2345735087","https://openalex.org/W2468867420","https://openalex.org/W2550253393","https://openalex.org/W2560352594","https://openalex.org/W2599225410","https://openalex.org/W2599329853","https://openalex.org/W2759461224","https://openalex.org/W2766274457","https://openalex.org/W2911216905","https://openalex.org/W2915945936","https://openalex.org/W2940153165","https://openalex.org/W2943392695","https://openalex.org/W2944878516","https://openalex.org/W2952269164","https://openalex.org/W2989417303","https://openalex.org/W2999810276","https://openalex.org/W3010007439","https://openalex.org/W3011071809","https://openalex.org/W3023266487","https://openalex.org/W3041570434","https://openalex.org/W3090508480","https://openalex.org/W3092294874","https://openalex.org/W3142067401","https://openalex.org/W3154082284","https://openalex.org/W3160971161","https://openalex.org/W3166992660","https://openalex.org/W3198489536","https://openalex.org/W4211157907","https://openalex.org/W4220719942","https://openalex.org/W4220941267","https://openalex.org/W4224979485","https://openalex.org/W4236094292","https://openalex.org/W4289793439","https://openalex.org/W4294214983","https://openalex.org/W4302306714","https://openalex.org/W4313493366","https://openalex.org/W4366083149","https://openalex.org/W4379769145","https://openalex.org/W4387002450","https://openalex.org/W4387966719","https://openalex.org/W4389936654","https://openalex.org/W4390373082","https://openalex.org/W4392706624","https://openalex.org/W4393050148","https://openalex.org/W4393424526","https://openalex.org/W4396808725","https://openalex.org/W4402054087","https://openalex.org/W4403039302","https://openalex.org/W4411157720"],"related_works":[],"abstract_inverted_index":{"BackgroundHuntington's":[0],"Disease-like":[1],"2":[2],"(HDL2)":[3],"presents":[4],"complexities":[5],"in":[6,20,208],"diagnosis":[7,37],"due":[8],"to":[9,12,51,166],"its":[10],"similarity":[11],"Huntington's":[13],"Disease":[14],"(HD).":[15],"Limited":[16,145],"research":[17],"highlights":[18,195],"gaps":[19],"knowledge":[21,61],"about":[22,103,149],"management":[23,152],"and":[24,55,63,91,108,110,129,153,155,161,172,179,190,192,204,214,224,238],"genetic":[25,56,106,126,150,212,236],"counselling":[26,213,239],"for":[27,38,47,68,210,222],"the":[28,123,196,200,231],"condition.":[29],"HDL2":[30,142,160,209,235],"is":[31],"rare":[32],"but":[33],"an":[34],"important":[35],"differential":[36],"individuals":[39,72,133],"with":[40,134,141,159],"HD-like":[41],"symptoms":[42,207],"who":[43],"have":[44],"tested":[45],"negative":[46],"HD.ObjectiveThis":[48],"review":[49,84,194],"aimed":[50],"synthesise":[52],"published":[53],"clinical":[54,104,124,188],"data":[57,146],"on":[58,174],"HDL2,":[59],"identify":[60],"gaps,":[62],"serve":[64],"as":[65],"a":[66,234],"resource":[67],"healthcare":[69],"professionals":[70],"supporting":[71],"affected":[73],"by":[74],"or":[75],"at":[76],"risk":[77],"of":[78,85,97,119,132,138,157,177,198,216,233],"HDL2.MethodsA":[79],"mixed":[80],"method":[81],"integrative":[82],"systematic":[83],"four":[86],"databases":[87],"(Medline,":[88],"Embase,":[89],"Scopus,":[90],"PsycINFO)":[92],"generated":[93],"323":[94],"peer-reviewed":[95],"articles,":[96],"which":[98],"36":[99],"were":[100,113,143],"included.":[101],"Data":[102],"features,":[105,125],"testing":[107,127,237],"counselling,":[109,151],"patient":[111,227],"experiences":[112,156,191,228],"interpreted":[114],"via":[115],"narrative":[116],"synthesis.ResultsThe":[117],"majority":[118],"included":[120],"studies":[121],"explored":[122],"results":[128],"medical":[130],"histories":[131],"HDL2.":[135],"A":[136],"total":[137],"109":[139],"people":[140],"reported.":[144],"was":[147],"obtained":[148],"support,":[154],"those":[158],"their":[162],"families.":[163],"Findings":[164],"related":[165],"seven":[167],"categories:":[168],"DNA":[169],"repeat":[170],"length":[171],"impact":[173],"phenotype,":[175],"age":[176],"onset":[178],"disease":[180],"duration,":[181],"family":[182],"history,":[183],"African":[184],"ancestry,":[185],"neurological":[186],"characteristics,":[187,189],"support.ConclusionsThis":[193],"importance":[197],"understanding":[199],"reduced":[201],"penetrance":[202],"range":[203],"early":[205],"psychiatric":[206],"accurate":[211],"interpretation":[215],"test":[217],"results.":[218],"Adapting":[219],"existing":[220],"protocols":[221],"HD":[223],"qualitatively":[225],"collecting":[226],"can":[229],"inform":[230],"development":[232],"protocol.":[240]},"counts_by_year":[],"updated_date":"2026-10-03T13:16:28.481748","created_date":"2026-01-23T00:00:00"}
