{"id":"https://openalex.org/W2101317618","doi":"https://doi.org/10.1212/01.wnl.0000040252.43269.83","title":"Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation","display_name":"Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation","publication_year":2003,"publication_date":"2003-01-14","ids":{"openalex":"https://openalex.org/W2101317618","doi":"https://doi.org/10.1212/01.wnl.0000040252.43269.83","mag":"2101317618","pmid":"https://pubmed.ncbi.nlm.nih.gov/12525746"},"language":"en","primary_location":{"id":"doi:10.1212/01.wnl.0000040252.43269.83","doi":"https://doi.org/10.1212/01.wnl.0000040252.43269.83","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000040252.43269.83","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-2","medline","norway-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5060484727","display_name":"Andrea Assini","orcid":"https://orcid.org/0000-0003-1192-6899","observed_orcids":["https://orcid.org/0000-0003-1192-6899"]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Assini","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023170742","display_name":"Liana Terreni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L. Terreni","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014522237","display_name":"Roberta Borghi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R. Borghi","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086890338","display_name":"Luca Giliberto","orcid":"https://orcid.org/0000-0002-6406-0964","observed_orcids":["https://orcid.org/0000-0002-6406-0964"]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L. Giliberto","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046713992","display_name":"Alessandra Piccini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Piccini","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028222661","display_name":"D. Loqui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"D. Loqui","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019268904","display_name":"Sergio Fogliarino","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S. Fogliarino","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084544899","display_name":"Gianluigi Forloni","orcid":"https://orcid.org/0000-0001-5374-3914","observed_orcids":["https://orcid.org/0000-0001-5374-3914"]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G. Forloni","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108087150","display_name":"Massimo Tabaton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19630809","display_name":"Mario Negri Institute for Pharmacological Research","ror":"https://ror.org/05aspc753","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I19630809","https://openalex.org/I4210110338","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M. Tabaton","raw_affiliation_strings":["From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurological Sciences (Drs. Assini, Borghi, Giliberto, Piccini, and Tabaton), University of Genova; Institute of Pharmacological Researches \u201cMario Negri\u201d (Drs. Terreni, Fogliarino, and Forloni), Milano; and Institute of Dermatology (Dr. Loqui), University of Torino, Italy","institution_ids":["https://openalex.org/I19630809","https://openalex.org/I55143463","https://openalex.org/I83816512"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.9959,"has_fulltext":false,"cited_by_count":38,"citation_normalized_percentile":{"value":0.85156041,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"60","issue":"1","first_page":"150","last_page":"150"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9775000214576721,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9775000214576721,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.017000000923871994,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.0017000000225380063,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/presenilin-1","display_name":"presenilin 1","score":0.9240000247955322},{"id":"https://openalex.org/keywords/spastic-paraparesis","display_name":"spastic paraparesis","score":0.9319999814033508},{"id":"https://openalex.org/keywords/dementia","display_name":"dementia","score":0.6660000085830688},{"id":"https://openalex.org/keywords/amyloid-beta-1-42","display_name":"amyloid-beta 42","score":0.8840000033378601},{"id":"https://openalex.org/keywords/app-processing","display_name":"APP processing","score":0.8690000176429749},{"id":"https://openalex.org/keywords/clinical-phenotype-heterogeneity","display_name":"clinical phenotype heterogeneity","score":0.7390000224113464},{"id":"https://openalex.org/keywords/kindred","display_name":"kindred","score":0.5400000214576721}],"concepts":[{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.5477872490882874},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5476211905479431},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5067875981330872},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3630422055721283},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33878904581069946},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3078473210334778},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28441524505615234},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.16627058386802673},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.11761504411697388},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10777407884597778}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D005260","descriptor_name":"Female","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":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009483","descriptor_name":"Neuropsychological Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009483","descriptor_name":"Neuropsychological Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009483","descriptor_name":"Neuropsychological Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011939","descriptor_name":"Mental Recall","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011939","descriptor_name":"Mental Recall","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011939","descriptor_name":"Mental Recall","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D017077","descriptor_name":"Culture Media, Conditioned","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D017077","descriptor_name":"Culture Media, Conditioned","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D017077","descriptor_name":"Culture Media, Conditioned","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020336","descriptor_name":"Paraparesis, Spastic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D053764","descriptor_name":"Presenilin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053764","descriptor_name":"Presenilin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053764","descriptor_name":"Presenilin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1212/01.wnl.0000040252.43269.83","doi":"https://doi.org/10.1212/01.wnl.0000040252.43269.83","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000040252.43269.83","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-2","medline","norway-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:12525746","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12525746","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":"Neurology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9922999739646912}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.5699999928474426}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W1979004999","https://openalex.org/W2027199523","https://openalex.org/W2034368230","https://openalex.org/W2074745197","https://openalex.org/W2092157460","https://openalex.org/W2101077392"],"related_works":["https://openalex.org/W2016807756","https://openalex.org/W2299685066","https://openalex.org/W2005681172","https://openalex.org/W131912789","https://openalex.org/W1964077949","https://openalex.org/W2041689158","https://openalex.org/W2040140395","https://openalex.org/W1658681964","https://openalex.org/W2146849562","https://openalex.org/W2028961943"],"abstract_inverted_index":{"The":[0,34,63],"early-onset":[1],"familial":[2],"AD":[3],"(EOFAD)":[4],"linked":[5],"to":[6],"presenilin":[7],"1":[8],"(":[9],"PS1":[10,61,80],")":[11],"mutations":[12],"show":[13],"a":[14,31,75,78],"heterogeneous":[15],"phenotype":[16,67],"that":[17,82],"is":[18,55,71],"illustrated":[19],"mainly":[20],"by":[21,104,127],"the":[22,42,45,56,90,149,157],"coexistence":[23],"of":[24,37,44,60,130,143],"dementia":[25],"with":[26,123],"spastic":[27],"paraparesis,":[28],"described":[29],"in":[30],"few":[32],"kindreds.1-3\u21d3\u21d3":[33],"altered":[35],"processing":[36],"amyloid":[38,47],"precursor":[39],"protein,":[40],"favoring":[41],"production":[43,70],"longer":[46],"\u03b2-peptide":[48],"form":[49],"ending":[50],"at":[51,108,120,136,148,156],"residue":[52],"42":[53],"(A\u03b242),":[54],"major":[57],"pathogenic":[58],"effect":[59],"mutations.4":[62],"relationship":[64],"between":[65],"clinical":[66,87],"and":[68,111],"A\u03b242":[69],"unclear.":[72],"We":[73],"report":[74],"kindred":[76],"bearing":[77],"novel":[79],"mutation":[81],"showed":[83,97],"an":[84],"extremely":[85],"wide":[86],"spectrum":[88],"among":[89],"three":[91],"affected":[92],"members.\n\nA":[93],"45-year-old":[94],"woman":[95],"(I-1)":[96],"progressive":[98,128],"paraparesis":[99],"followed":[100,126],"after":[101],"5":[102],"years":[103,122,138],"dementia.":[105],"She":[106],"died":[107],"age":[109],"57,":[110],"autopsy":[112],"was":[113],"not":[114,140],"performed.":[115],"Her":[116,151],"daughter":[117],"(II-2)":[118],"presented":[119],"48":[121],"delusional":[124],"thinking":[125],"impairment":[129],"all":[131],"cognitive":[132],"functions.":[133],"Neurologic":[134],"examination":[135],"55":[137],"did":[139],"reveal":[141],"loss":[142],"strength":[144],"or":[145],"pyramidal":[146],"signs":[147],"limbs.":[150],"brother":[152],"(II-3)":[153],"became":[154],"symptomatic":[155],"\u2026":[158]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2025-10-10T00:00:00"}