{"id":"https://openalex.org/W7166325585","doi":"https://doi.org/10.1002/mdc3.70718","title":"Cutis Verticis Gyrata in SPG11 \u2010Related Hereditary Spastic Paraplegia: A Potential Novel Association","display_name":"Cutis Verticis Gyrata in SPG11 \u2010Related Hereditary Spastic Paraplegia: A Potential Novel Association","publication_year":2026,"publication_date":"2026-06-26","ids":{"openalex":"https://openalex.org/W7166325585","doi":"https://doi.org/10.1002/mdc3.70718","pmid":"https://pubmed.ncbi.nlm.nih.gov/42363398"},"language":"en","primary_location":{"id":"doi:10.1002/mdc3.70718","doi":"https://doi.org/10.1002/mdc3.70718","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mdc3.70718","pdf_url":null,"source":{"id":"https://openalex.org/S2764712647","display_name":"Movement Disorders Clinical Practice","issn_l":"2330-1619","issn":["2330-1619"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Movement Disorders Clinical Practice","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13339415/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091654328","display_name":"Beatriz Cassarotti","orcid":"https://orcid.org/0000-0003-1655-4350","observed_orcids":["https://orcid.org/0000-0003-1655-4350"]},"institutions":[{"id":"https://openalex.org/I4210134516","display_name":"Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1","ror":"https://ror.org/03ej9xm26","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210134516"]},{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Beatriz Cassarotti","raw_affiliation_strings":["Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil"],"raw_orcid":"https://orcid.org/0000-0003-1655-4350","affiliations":[{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048550735","display_name":"Patr\u00edcia \u00c1urea Andreucci Martins Bonilha","orcid":"https://orcid.org/0000-0002-3397-3111","observed_orcids":["https://orcid.org/0000-0002-3397-3111"]},"institutions":[{"id":"https://openalex.org/I4210134516","display_name":"Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1","ror":"https://ror.org/03ej9xm26","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210134516"]},{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Patricia Aurea Andreucci Martins Bonilha","raw_affiliation_strings":["Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil"],"raw_orcid":"https://orcid.org/0000-0002-3397-3111","affiliations":[{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060114303","display_name":"Thabata Emanuelle Martins Nunes","orcid":"https://orcid.org/0000-0002-6789-0816","observed_orcids":["https://orcid.org/0000-0002-6789-0816"]},"institutions":[{"id":"https://openalex.org/I4210134516","display_name":"Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1","ror":"https://ror.org/03ej9xm26","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210134516"]},{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Thabata Emanuelle Martins Nunes","raw_affiliation_strings":["Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084403663","display_name":"L\u00e9o Coutinho","orcid":"https://orcid.org/0000-0003-4921-2939","observed_orcids":["https://orcid.org/0000-0003-4921-2939"]},"institutions":[{"id":"https://openalex.org/I4210134516","display_name":"Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1","ror":"https://ror.org/03ej9xm26","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210134516"]},{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"L\u00e9o Coutinho","raw_affiliation_strings":["Postgraduate Program in Internal Medicine, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil"],"raw_orcid":"https://orcid.org/0000-0003-4921-2939","affiliations":[{"raw_affiliation_string":"Postgraduate Program in Internal Medicine, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053364373","display_name":"Luiz Eduardo Novis","orcid":"https://orcid.org/0000-0003-1479-2953","observed_orcids":["https://orcid.org/0000-0003-1479-2953"]},"institutions":[{"id":"https://openalex.org/I4210134516","display_name":"Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1","ror":"https://ror.org/03ej9xm26","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210134516"]},{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Luiz Eduardo Novis","raw_affiliation_strings":["Postgraduate Program in Internal Medicine, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil"],"raw_orcid":"https://orcid.org/0000-0003-1479-2953","affiliations":[{"raw_affiliation_string":"Postgraduate Program in Internal Medicine, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091205251","display_name":"Walter Oleschko Arruda","orcid":"https://orcid.org/0000-0002-2233-2183","observed_orcids":["https://orcid.org/0000-0002-2233-2183"]},"institutions":[{"id":"https://openalex.org/I4210134516","display_name":"Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1","ror":"https://ror.org/03ej9xm26","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210134516"]},{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Walter Oleschko Arruda","raw_affiliation_strings":["Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil"],"raw_orcid":"https://orcid.org/0000-0002-2233-2183","affiliations":[{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020462584","display_name":"Salmo Raskin","orcid":"https://orcid.org/0000-0002-7191-0592","observed_orcids":["https://orcid.org/0000-0002-7191-0592"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Salmo Raskin","raw_affiliation_strings":["Genetika\u2014Genetic Counseling Center and Laboratory  Curitiba Brazil"],"raw_orcid":"https://orcid.org/0000-0002-7191-0592","affiliations":[{"raw_affiliation_string":"Genetika\u2014Genetic Counseling Center and Laboratory  Curitiba Brazil","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5057671574","display_name":"H\u00e9lio Afonso Ghizoni Teive","orcid":"https://orcid.org/0000-0003-2305-1073","observed_orcids":["https://orcid.org/0000-0003-2305-1073","https://orcid.org/0000-0002-4045-1178"]},"institutions":[{"id":"https://openalex.org/I4210134516","display_name":"Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1","ror":"https://ror.org/03ej9xm26","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210134516"]},{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"H\u00e9lio A. Ghizoni Teive","raw_affiliation_strings":["Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","Postgraduate Program in Internal Medicine, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil"],"raw_orcid":"https://orcid.org/0000-0003-2305-1073","affiliations":[{"raw_affiliation_string":"Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]},{"raw_affiliation_string":"Postgraduate Program in Internal Medicine, Hospital de Cl\u00ednicas Federal University of Paran\u00e1  Curitiba Brazil","institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5084403663"],"corresponding_institution_ids":["https://openalex.org/I4210134516","https://openalex.org/I52418104"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.45668709,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9976000189781189,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.9976000189781189,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.00039999998989515007,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/cutis-verticis-gyrata","display_name":"cutis verticis gyrata","score":0.9980000257492065},{"id":"https://openalex.org/keywords/hereditary-spastic-paraplegia","display_name":"hereditary spastic paraplegia","score":0.9750000238418579},{"id":"https://openalex.org/keywords/spg11","display_name":"SPG11","score":0.9810000061988831},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8450000286102295},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.9380000233650208},{"id":"https://openalex.org/keywords/novel-associations","display_name":"novel associations","score":0.37599998712539673}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7013000249862671},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.5795999765396118},{"id":"https://openalex.org/C2779923321","wikidata":"https://www.wikidata.org/wiki/Q774347","display_name":"Consanguinity","level":2,"score":0.46549999713897705},{"id":"https://openalex.org/C2776195251","wikidata":"https://www.wikidata.org/wiki/Q7573993","display_name":"Spastic","level":3,"score":0.46309998631477356},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.420199990272522},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4016999900341034},{"id":"https://openalex.org/C2778934254","wikidata":"https://www.wikidata.org/wiki/Q5196857","display_name":"Cutis","level":2,"score":0.30469998717308044},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.22010000050067902},{"id":"https://openalex.org/C2778047097","wikidata":"https://www.wikidata.org/wiki/Q3031","display_name":"Girl","level":2,"score":0.21310000121593475},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.21279999613761902}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1002/mdc3.70718","doi":"https://doi.org/10.1002/mdc3.70718","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mdc3.70718","pdf_url":null,"source":{"id":"https://openalex.org/S2764712647","display_name":"Movement Disorders Clinical Practice","issn_l":"2330-1619","issn":["2330-1619"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Movement Disorders Clinical Practice","raw_type":"journal-article"},{"id":"pmid:42363398","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42363398","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":"Movement disorders clinical practice","raw_type":"Letter"},{"id":"pmh:oai:pubmedcentral.nih.gov:13339415","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13339415/","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mov Disord Clin Pract","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:13339415","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13339415/","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mov Disord Clin Pract","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W2012485466","https://openalex.org/W2129347301","https://openalex.org/W2908172072","https://openalex.org/W2965952631","https://openalex.org/W3021604314","https://openalex.org/W3199733412"],"related_works":[],"abstract_inverted_index":{"The":[0,34,62],"data":[1],"that":[2],"support":[3],"the":[4,12,37,68,78,90,94],"findings":[5],"of":[6,49,52,72],"this":[7],"study":[8],"are":[9],"available":[10],"from":[11],"corresponding":[13,91],"author":[14,92],"upon":[15],"reasonable":[16],"request.":[17],"Figure":[18],"S1.":[19,47],"Pedigree":[20],"demonstrating":[21],"parental":[22],"consanguinity":[23],"and":[24],"two":[25],"affected":[26],"brothers,":[27],"consistent":[28],"with":[29,57],"presumed":[30],"autosomal":[31],"recessive":[32],"inheritance.":[33],"arrow":[35],"indicates":[36],"proband.":[38],"Created":[39],"in":[40],"BioRender.":[41],"Coutinho,":[42],"L.":[43],"(2026).":[44],"https://BioRender.com/xk8fsk1.":[45],"Table":[46],"Comparison":[48],"reported":[50],"cases":[51],"cutis":[53],"verticis":[54],"gyrata":[55],"associated":[56],"spastic":[58],"paraplegia.":[59],"Please":[60],"note:":[61],"publisher":[63],"is":[64],"not":[65],"responsible":[66],"for":[67,93],"content":[69],"or":[70],"functionality":[71],"any":[73],"supporting":[74],"information":[75],"supplied":[76],"by":[77],"authors.":[79],"Any":[80],"queries":[81],"(other":[82],"than":[83],"missing":[84],"content)":[85],"should":[86],"be":[87],"directed":[88],"to":[89],"article.":[95]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2026-06-28T00:00:00"}