{"id":"https://openalex.org/W2003295175","doi":"https://doi.org/10.1007/s004010050539","title":"Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation","display_name":"Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation","publication_year":1996,"publication_date":"1996-09-11","ids":{"openalex":"https://openalex.org/W2003295175","doi":"https://doi.org/10.1007/s004010050539","mag":"2003295175","pmid":"https://pubmed.ncbi.nlm.nih.gov/8891076"},"language":"en","primary_location":{"id":"doi:10.1007/s004010050539","doi":"https://doi.org/10.1007/s004010050539","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s004010050539","pdf_url":null,"source":{"id":"https://openalex.org/S198620474","display_name":"Acta Neuropathologica","issn_l":"0001-6322","issn":["0001-6322","1432-0533"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Neuropathologica","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/A5111850855","display_name":"Ana I. Rubio","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Rubio","raw_affiliation_strings":["Department of Pathology, University of Rochester, NY 14642, USA. arubio@pathology.rochester.edu","Department of Pathology, University of Rochester,  Rochester, NY 14642, USA Tel.: (716) 275-3202","Fax: (716) 273-1027"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Rochester, NY 14642, USA. arubio@pathology.rochester.edu","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Department of Pathology, University of Rochester,  Rochester, NY 14642, USA Tel.: (716) 275-3202","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Fax: (716) 273-1027","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010437356","display_name":"Kim Steinberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K. Steinberg","raw_affiliation_strings":["Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070811084","display_name":"Denise A. Figlewicz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. A. Figlewicz","raw_affiliation_strings":["Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107600679","display_name":"Marcy E. MacDonald","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. E. MacDonald","raw_affiliation_strings":["Molecular Neurogenetics Unit, Massachusetts General Hospital,  Charleston, MA 02129, USA, , , , , , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Neurogenetics Unit, Massachusetts General Hospital,  Charleston, MA 02129, USA, , , , , , US","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016806788","display_name":"J. Timothy Greenamyre","orcid":"https://orcid.org/0000-0003-3468-7878","observed_orcids":["https://orcid.org/0000-0003-3468-7878"]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T. Greenamyre","raw_affiliation_strings":["Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008532038","display_name":"RW Hamill","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. Hamill","raw_affiliation_strings":["Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029815425","display_name":"Ira Shoulson","orcid":"https://orcid.org/0000-0001-6140-1797","observed_orcids":["https://orcid.org/0000-0001-6140-1797"]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"I. Shoulson","raw_affiliation_strings":["Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Rochester,  Rochester, NY 14642, USA, , , , , , US","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5104045576","display_name":"James M. Powers","orcid":"https://orcid.org/0000-0002-6107-0569","observed_orcids":["https://orcid.org/0000-0002-6107-0569"]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. M. Powers","raw_affiliation_strings":["Department of Pathology, University of Rochester,  Rochester, NY 14642, USA Tel.: (716) 275-3202; Fax: (716) 273-1027;  e-mail: arubio@pathology.rochester.edu, , , , , , US","Department of Pathology, University of Rochester,  Rochester, NY 14642, USA Tel.: (716) 275-3202","Fax: (716) 273-1027"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Rochester,  Rochester, NY 14642, USA Tel.: (716) 275-3202; Fax: (716) 273-1027;  e-mail: arubio@pathology.rochester.edu, , , , , , US","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Department of Pathology, University of Rochester,  Rochester, NY 14642, USA Tel.: (716) 275-3202","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Fax: (716) 273-1027","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4990,"currency":"USD","value_usd":4990},"apc_paid":null,"fwci":0.2699,"has_fulltext":false,"cited_by_count":32,"citation_normalized_percentile":{"value":0.45926557,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"92","issue":"4","first_page":"421","last_page":"427"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.923799991607666,"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":0.923799991607666,"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.07240000367164612,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.000699999975040555,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/huntington-s-disease","display_name":"Huntington's disease","score":0.9940000176429749},{"id":"https://openalex.org/keywords/familial-amyotrophic-lateral-sclerosis","display_name":"familial ALS","score":0.9990000128746033},{"id":"https://openalex.org/keywords/trinucleotide-repeat-expansion","display_name":"trinucleotide repeat expansion","score":0.9789999723434448},{"id":"https://openalex.org/keywords/chromosome-4p16-3","display_name":"chromosome 4p16.3","score":0.9670000076293945},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.6150000095367432},{"id":"https://openalex.org/keywords/basal-ganglia-atrophy","display_name":"basal ganglia atrophy","score":0.7609999775886536},{"id":"https://openalex.org/keywords/motor-neuron-degeneration","display_name":"motor neuron degeneration","score":0.640999972820282},{"id":"https://openalex.org/keywords/cu-zn-superoxide-dismutase","display_name":"Cu/Zn superoxide dismutase","score":0.7699999809265137},{"id":"https://openalex.org/keywords/neurofilament-heavy-chain","display_name":"neurofilament heavy chain","score":0.753000020980835},{"id":"https://openalex.org/keywords/neuropathology","display_name":"neuropathology","score":0.6320000290870667},{"id":"https://openalex.org/keywords/cognitive-decline","display_name":"cognitive decline","score":0.4449999928474426},{"id":"https://openalex.org/keywords/choreoathetosis","display_name":"choreoathetosis","score":0.906000018119812}],"concepts":[{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.8091857433319092},{"id":"https://openalex.org/C2777682930","wikidata":"https://www.wikidata.org/wiki/Q1531490","display_name":"Gliosis","level":2,"score":0.70793616771698},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.6155427098274231},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.539576530456543},{"id":"https://openalex.org/C2780775167","wikidata":"https://www.wikidata.org/wiki/Q9606","display_name":"Spinal cord","level":2,"score":0.49251851439476013},{"id":"https://openalex.org/C2777427615","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative disease","level":3,"score":0.46440696716308594},{"id":"https://openalex.org/C2780647506","wikidata":"https://www.wikidata.org/wiki/Q190564","display_name":"Huntington's disease","level":3,"score":0.4629790186882019},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46123433113098145},{"id":"https://openalex.org/C2779155698","wikidata":"https://www.wikidata.org/wiki/Q2844600","display_name":"Amyotrophy","level":3,"score":0.43525487184524536},{"id":"https://openalex.org/C2777615887","wikidata":"https://www.wikidata.org/wiki/Q15328137","display_name":"SOD1","level":4,"score":0.4226093590259552},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2833991050720215},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.10819447040557861}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"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":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s004010050539","doi":"https://doi.org/10.1007/s004010050539","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s004010050539","pdf_url":null,"source":{"id":"https://openalex.org/S198620474","display_name":"Acta Neuropathologica","issn_l":"0001-6322","issn":["0001-6322","1432-0533"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Neuropathologica","raw_type":"journal-article"},{"id":"pmid:8891076","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8891076","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":"Acta neuropathologica","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.979200005531311,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G1182774803","display_name":null,"funder_award_id":"AG 08665","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G8327339296","display_name":"ALZHEIMERS DISEASE CENTER","funder_award_id":"P30AG008665","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W130557099","https://openalex.org/W1971639674","https://openalex.org/W1975186347","https://openalex.org/W1994636655","https://openalex.org/W1996199741","https://openalex.org/W2009883535","https://openalex.org/W2016293448","https://openalex.org/W2029225256","https://openalex.org/W2038061000","https://openalex.org/W2044802531","https://openalex.org/W2048302926","https://openalex.org/W2060191653","https://openalex.org/W2067638483","https://openalex.org/W2082056883","https://openalex.org/W2090322157","https://openalex.org/W2096386031","https://openalex.org/W2133644779","https://openalex.org/W2135129164","https://openalex.org/W2152013801","https://openalex.org/W2178362796","https://openalex.org/W2399947675","https://openalex.org/W2407526549","https://openalex.org/W2414328415","https://openalex.org/W2418104006","https://openalex.org/W2472887700","https://openalex.org/W2885881053"],"related_works":["https://openalex.org/W2059206152","https://openalex.org/W2898870563","https://openalex.org/W2008027189","https://openalex.org/W4389740629","https://openalex.org/W4391882732","https://openalex.org/W4399796699","https://openalex.org/W2891456041","https://openalex.org/W2153169653","https://openalex.org/W4312066163","https://openalex.org/W2166618046"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}