{"id":"https://openalex.org/W7225785015","doi":"https://doi.org/10.3389/fgene.2026.1955699","title":"Case report and literature review of spastic paraplegia type 5: a patient with two heterozygous CYP7B1 nonsense variants","display_name":"Case report and literature review of spastic paraplegia type 5: a patient with two heterozygous CYP7B1 nonsense variants","publication_year":2026,"publication_date":"2026-11-11","ids":{"openalex":"https://openalex.org/W7225785015","doi":"https://doi.org/10.3389/fgene.2026.1955699"},"language":"en","primary_location":{"id":"doi:10.3389/fgene.2026.1955699","doi":"https://doi.org/10.3389/fgene.2026.1955699","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fgene.2026.1955699","pdf_url":null,"source":{"id":"https://openalex.org/S2597340651","display_name":"Frontiers in Genetics","issn_l":"1664-8021","issn":["1664-8021"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3389/fgene.2026.1955699","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5152400840","display_name":"Ling Gao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I118783713","display_name":"Fujian University of Traditional Chinese Medicine","ror":"https://ror.org/05n0qbd70","country_code":"CN","type":"education","lineage":["https://openalex.org/I118783713"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ling Gao","raw_affiliation_strings":["Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine","institution_ids":["https://openalex.org/I118783713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5161485112","display_name":"Zhenguo Shi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I118783713","display_name":"Fujian University of Traditional Chinese Medicine","ror":"https://ror.org/05n0qbd70","country_code":"CN","type":"education","lineage":["https://openalex.org/I118783713"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhenguo Shi","raw_affiliation_strings":["Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine","institution_ids":["https://openalex.org/I118783713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112992623","display_name":"Yanli Huang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I118783713","display_name":"Fujian University of Traditional Chinese Medicine","ror":"https://ror.org/05n0qbd70","country_code":"CN","type":"education","lineage":["https://openalex.org/I118783713"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanli Huang","raw_affiliation_strings":["Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine","institution_ids":["https://openalex.org/I118783713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007402840","display_name":"Huang MiaoSen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I118783713","display_name":"Fujian University of Traditional Chinese Medicine","ror":"https://ror.org/05n0qbd70","country_code":"CN","type":"education","lineage":["https://openalex.org/I118783713"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Miaosen Huang","raw_affiliation_strings":["Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine","institution_ids":["https://openalex.org/I118783713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050707954","display_name":"Yingnan Mo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I118783713","display_name":"Fujian University of Traditional Chinese Medicine","ror":"https://ror.org/05n0qbd70","country_code":"CN","type":"education","lineage":["https://openalex.org/I118783713"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yingnan Mo","raw_affiliation_strings":["Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine","institution_ids":["https://openalex.org/I118783713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5161489405","display_name":"Yong Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I118783713","display_name":"Fujian University of Traditional Chinese Medicine","ror":"https://ror.org/05n0qbd70","country_code":"CN","type":"education","lineage":["https://openalex.org/I118783713"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yong Wang","raw_affiliation_strings":["Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine","institution_ids":["https://openalex.org/I118783713"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004379269","display_name":"Haipeng Jin","orcid":"https://orcid.org/0000-0002-9565-6103","observed_orcids":["https://orcid.org/0000-0002-9565-6103"]},"institutions":[{"id":"https://openalex.org/I118783713","display_name":"Fujian University of Traditional Chinese Medicine","ror":"https://ror.org/05n0qbd70","country_code":"CN","type":"education","lineage":["https://openalex.org/I118783713"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Haipeng Jin","raw_affiliation_strings":["Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rehabilitation, Xiamen TCM Hospital Affiliated to Fujian University of Traditional Chinese Medicine","institution_ids":["https://openalex.org/I118783713"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I118783713"],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","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":0.9994999766349792,"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/T12331","display_name":"Hereditary Neurological Disorders","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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":9.999999747378752e-05,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[],"concepts":[{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.7799000144004822},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6388999819755554},{"id":"https://openalex.org/C156957248","wikidata":"https://www.wikidata.org/wiki/Q1862216","display_name":"Odds ratio","level":2,"score":0.5598000288009644},{"id":"https://openalex.org/C44249647","wikidata":"https://www.wikidata.org/wiki/Q208498","display_name":"Confidence interval","level":2,"score":0.4496999979019165},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.4162999987602234},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4083000123500824},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3912000060081482},{"id":"https://openalex.org/C35785553","wikidata":"https://www.wikidata.org/wiki/Q756720","display_name":"Ambulatory","level":2,"score":0.3634999990463257},{"id":"https://openalex.org/C2776195251","wikidata":"https://www.wikidata.org/wiki/Q7573993","display_name":"Spastic","level":3,"score":0.35749998688697815},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.3402000069618225},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.33970001339912415},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.3357999920845032},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.328900009393692},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.3158999979496002},{"id":"https://openalex.org/C30036603","wikidata":"https://www.wikidata.org/wiki/Q17125150","display_name":"Severity of illness","level":2,"score":0.2978000044822693},{"id":"https://openalex.org/C151956035","wikidata":"https://www.wikidata.org/wiki/Q1132755","display_name":"Logistic regression","level":2,"score":0.2818000018596649},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2648000121116638},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.2614000141620636},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.25940001010894775},{"id":"https://openalex.org/C3018260909","wikidata":"https://www.wikidata.org/wiki/Q1322871","display_name":"Exploratory analysis","level":2,"score":0.25360000133514404}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3389/fgene.2026.1955699","doi":"https://doi.org/10.3389/fgene.2026.1955699","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fgene.2026.1955699","pdf_url":null,"source":{"id":"https://openalex.org/S2597340651","display_name":"Frontiers in Genetics","issn_l":"1664-8021","issn":["1664-8021"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Genetics","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.3389/fgene.2026.1955699","doi":"https://doi.org/10.3389/fgene.2026.1955699","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fgene.2026.1955699","pdf_url":null,"source":{"id":"https://openalex.org/S2597340651","display_name":"Frontiers in Genetics","issn_l":"1664-8021","issn":["1664-8021"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Genetics","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":45,"referenced_works":["https://openalex.org/W1939226394","https://openalex.org/W1987527365","https://openalex.org/W1999856373","https://openalex.org/W2006430824","https://openalex.org/W2007934115","https://openalex.org/W2021129547","https://openalex.org/W2039886688","https://openalex.org/W2046566059","https://openalex.org/W2051978340","https://openalex.org/W2078431248","https://openalex.org/W2084192797","https://openalex.org/W2113664350","https://openalex.org/W2123957814","https://openalex.org/W2131645381","https://openalex.org/W2147471451","https://openalex.org/W2155514169","https://openalex.org/W2169985154","https://openalex.org/W2214144974","https://openalex.org/W2221534003","https://openalex.org/W2266150566","https://openalex.org/W2413437538","https://openalex.org/W2760936713","https://openalex.org/W2766225036","https://openalex.org/W2767913965","https://openalex.org/W2772552632","https://openalex.org/W2897818889","https://openalex.org/W3012675595","https://openalex.org/W3096393294","https://openalex.org/W3136170811","https://openalex.org/W3153806102","https://openalex.org/W3200418062","https://openalex.org/W3217387229","https://openalex.org/W3217672890","https://openalex.org/W4210406224","https://openalex.org/W4285745152","https://openalex.org/W4386291629","https://openalex.org/W4387709555","https://openalex.org/W4389149695","https://openalex.org/W4391791236","https://openalex.org/W4410890842","https://openalex.org/W4411846198","https://openalex.org/W4412458926","https://openalex.org/W4413054944","https://openalex.org/W4416570906","https://openalex.org/W7123352475"],"related_works":[],"abstract_inverted_index":{"Background":[0],"Hereditary":[1],"spastic":[2,46],"paraplegia":[3],"type":[4],"5":[5],"(SPG5)":[6],"is":[7],"a":[8,36,122,216],"rare":[9],"autosomal":[10],"recessive":[11],"neurodegenerative":[12],"disorder":[13],"associated":[14,95,168],"with":[15,96,125,169,220,233],"biallelic":[16],"CYP7B1":[17,52,191],"variants":[18,193],"and":[19,27,56,188,203],"altered":[20],"oxysterol":[21],"metabolism.":[22],"The":[23,115,185],"relationship":[24],"between":[25],"genotype":[26,146],"clinical":[28,186],"severity":[29],"remains":[30],"uncertain.":[31,230],"Case":[32],"Presentation":[33],"We":[34],"describe":[35],"55-year-old":[37],"woman":[38],"evaluated":[39],"at":[40,89],"age":[41],"55":[42],"years":[43],"for":[44,142],"progressive":[45],"paraplegia.":[47],"Sequencing":[48],"identified":[49],"two":[50,189],"heterozygous":[51,190],"nonsense":[53,192],"variants,":[54],"c.1162C>T":[55],"c.334C>T,":[57],"but":[58,153,225],"their":[59,201],"allelic":[60],"phase":[61,202],"was":[62,94,154,167,229],"not":[63],"established.":[64],"An":[65],"exploratory":[66],"pooled":[67,210],"analysis":[68,120],"included":[69],"131":[70],"patients,":[71],"of":[72,88,99],"whom":[73],"80":[74],"had":[75],"classifiable":[76],"ambulatory":[77,101,171,223],"status.":[78],"In":[79,209],"univariable":[80,116,218],"mean":[81],"bias-reduced":[82],"cumulative":[83],"logit":[84],"regression,":[85],"the":[86,145,150,197,226],"presence":[87],"least":[90],"one":[91],"truncating":[92],"variant":[93],"lower":[97],"odds":[98],"worse":[100,170],"status":[102,172,214],"(odds":[103],"ratio":[104],"[OR],":[105],"0.30;":[106],"95%":[107,134,158,178],"confidence":[108],"interval":[109],"[CI],":[110],"0.12\u20130.78;":[111],"P":[112,137,161,181],"=":[113,138,162],"0.013).":[114],"Firth":[117],"binary":[118],"sensitivity":[119],"showed":[121,215],"similar":[123],"association":[124,219],"wheelchair":[126],"dependence":[127],"or":[128],"no":[129],"functional":[130,205],"ambulation":[131],"(OR,":[132,156],"0.31;":[133],"CI,":[135,159,179],"0.09\u20130.99;":[136],"0.048).":[139],"After":[140],"adjustment":[141],"disease":[143],"duration,":[144],"estimate":[147,228],"remained":[148],"in":[149],"same":[151],"direction":[152],"imprecise":[155],"0.35;":[157],"0.12\u20131.04;":[160],"0.059),":[163],"while":[164],"longer":[165],"duration":[166],"(OR":[173],"per":[174],"10":[175],"years,":[176],"2.22;":[177],"1.51\u20133.26;":[180],"<":[182],"0.001).":[183],"Conclusion":[184],"findings":[187],"support":[194],"SPG5":[195],"as":[196],"leading":[198],"diagnosis,":[199],"although":[200],"combined":[204],"effect":[206],"remain":[207],"unconfirmed.":[208],"cross-sectional":[211],"data,":[212],"truncating-variant":[213],"consistent":[217],"less":[221],"severe":[222],"impairment,":[224],"adjusted":[227],"Larger":[231],"cohorts":[232],"standardized":[234],"outcomes":[235],"are":[236],"needed":[237],"to":[238],"assess":[239],"this":[240],"genotype\u2013phenotype":[241],"association.":[242]},"counts_by_year":[],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2026-11-12T00:00:00"}
