{"id":"https://openalex.org/W7225201969","doi":"https://doi.org/10.1155/crig/1920171","title":"A Woman With Multiple Neuropathic Symptoms, Hypersensitivity to Heat, Peppers, and Alcohol, With a Variant in the TRPV1 Capsaicin Receptor Gene: Possible Implications to ME/CFS","display_name":"A Woman With Multiple Neuropathic Symptoms, Hypersensitivity to Heat, Peppers, and Alcohol, With a Variant in the TRPV1 Capsaicin Receptor Gene: Possible Implications to ME/CFS","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7225201969","doi":"https://doi.org/10.1155/crig/1920171","pmid":"https://pubmed.ncbi.nlm.nih.gov/42979319","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13729082"},"language":"en","primary_location":{"id":"doi:10.1155/crig/1920171","doi":"https://doi.org/10.1155/crig/1920171","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crig/1920171","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/1920171","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/1920171","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5160408442","display_name":"Phillip M. Zimmermann","orcid":"https://orcid.org/0009-0001-5466-633X","observed_orcids":["https://orcid.org/0009-0001-5466-633X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Phillip M. Zimmermann","raw_affiliation_strings":["Mitochondrial &amp; Molecular Medicine  Pasadena California USA"],"raw_orcid":"https://orcid.org/0009-0001-5466-633X","affiliations":[{"raw_affiliation_string":"Mitochondrial &amp; Molecular Medicine  Pasadena California USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102834256","display_name":"Richard G. Boles","orcid":"https://orcid.org/0009-0005-3332-4137","observed_orcids":["https://orcid.org/0009-0005-3332-4137"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Richard G. Boles","raw_affiliation_strings":["Mitochondrial &amp; Molecular Medicine  Pasadena California USA","NeuroNeeds  Old Lyme Connecticut USA"],"raw_orcid":"https://orcid.org/0009-0005-3332-4137","affiliations":[{"raw_affiliation_string":"Mitochondrial &amp; Molecular Medicine  Pasadena California USA","institution_ids":[]},{"raw_affiliation_string":"NeuroNeeds  Old Lyme Connecticut USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5102834256"],"corresponding_institution_ids":[],"apc_list":{"value":790,"currency":"USD","value_usd":790},"apc_paid":{"value":790,"currency":"USD","value_usd":790},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.82542801,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2026","issue":"1","first_page":"1920171","last_page":"1920171"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11204","display_name":"Ion Channels and Receptors","score":0.8804000020027161,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"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/T11204","display_name":"Ion Channels and Receptors","score":0.8804000020027161,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.04960000142455101,"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/T10196","display_name":"Pain Mechanisms and Treatments","score":0.02410000003874302,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/trpv1","display_name":"TRPV1","score":0.9980000257492065},{"id":"https://openalex.org/keywords/capsaicin-receptor","display_name":"capsaicin receptor","score":0.9670000076293945},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7919999957084656},{"id":"https://openalex.org/keywords/chronic-fatigue-syndrome","display_name":"chronic fatigue syndrome","score":0.9549999833106995},{"id":"https://openalex.org/keywords/sensory-polyneuropathy","display_name":"sensory polyneuropathy","score":0.8610000014305115},{"id":"https://openalex.org/keywords/autonomic-instability","display_name":"autonomic instability","score":0.5759999752044678},{"id":"https://openalex.org/keywords/migraine","display_name":"migraine","score":0.7620000243186951},{"id":"https://openalex.org/keywords/functional-gastrointestinal-disorders","display_name":"functional gastrointestinal disorders","score":0.9480000138282776},{"id":"https://openalex.org/keywords/heat-hypersensitivity","display_name":"heat hypersensitivity","score":0.7770000100135803},{"id":"https://openalex.org/keywords/nociception","display_name":"nociception","score":0.777999997138977},{"id":"https://openalex.org/keywords/channelopathies","display_name":"channelopathies","score":0.699999988079071}],"concepts":[{"id":"https://openalex.org/C160145004","wikidata":"https://www.wikidata.org/wiki/Q413209","display_name":"TRPV1","level":4,"score":0.9376000165939331},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7738000154495239},{"id":"https://openalex.org/C155164980","wikidata":"https://www.wikidata.org/wiki/Q304043","display_name":"Transient receptor potential channel","level":3,"score":0.734499990940094},{"id":"https://openalex.org/C172659308","wikidata":"https://www.wikidata.org/wiki/Q412542","display_name":"Nociceptor","level":4,"score":0.6164000034332275},{"id":"https://openalex.org/C2777107010","wikidata":"https://www.wikidata.org/wiki/Q2798704","display_name":"Neuropathic pain","level":2,"score":0.5371000170707703},{"id":"https://openalex.org/C2780051329","wikidata":"https://www.wikidata.org/wiki/Q273169","display_name":"Capsaicin","level":3,"score":0.49900001287460327},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.45719999074935913},{"id":"https://openalex.org/C15490471","wikidata":"https://www.wikidata.org/wiki/Q2734305","display_name":"Nociception","level":3,"score":0.421099990606308},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.38589999079704285},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.37549999356269836},{"id":"https://openalex.org/C94487597","wikidata":"https://www.wikidata.org/wiki/Q11101","display_name":"Sensory system","level":2,"score":0.36559998989105225},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.3345000147819519},{"id":"https://openalex.org/C64357122","wikidata":"https://www.wikidata.org/wiki/Q1149766","display_name":"Causality (physics)","level":2,"score":0.3253999948501587},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.3239000141620636},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.32100000977516174},{"id":"https://openalex.org/C89611455","wikidata":"https://www.wikidata.org/wiki/Q6804646","display_name":"Mechanism (biology)","level":2,"score":0.31690001487731934},{"id":"https://openalex.org/C2779901536","wikidata":"https://www.wikidata.org/wiki/Q945238","display_name":"Peripheral neuropathy","level":3,"score":0.3091000020503998},{"id":"https://openalex.org/C2781118164","wikidata":"https://www.wikidata.org/wiki/Q1088113","display_name":"Chronic pain","level":2,"score":0.30329999327659607},{"id":"https://openalex.org/C142656374","wikidata":"https://www.wikidata.org/wiki/Q2706070","display_name":"Thermoreceptor","level":3,"score":0.28760001063346863},{"id":"https://openalex.org/C130093455","wikidata":"https://www.wikidata.org/wiki/Q173253","display_name":"Sensation","level":2,"score":0.28519999980926514},{"id":"https://openalex.org/C2779245659","wikidata":"https://www.wikidata.org/wiki/Q1633866","display_name":"Hyperalgesia","level":4,"score":0.26829999685287476},{"id":"https://openalex.org/C197934379","wikidata":"https://www.wikidata.org/wiki/Q2047938","display_name":"Adverse effect","level":2,"score":0.26809999346733093},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.2669000029563904}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1155/crig/1920171","doi":"https://doi.org/10.1155/crig/1920171","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crig/1920171","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/1920171","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13729082","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13729082/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13729082/pdf/CRIG-2026-1920171.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Rep Genet","raw_type":"Text"},{"id":"pmid:42979319","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42979319","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":"Case reports in genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1155/crig/1920171","doi":"https://doi.org/10.1155/crig/1920171","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crig/1920171","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/1920171","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225201969.pdf","grobid_xml":"https://content.openalex.org/works/W7225201969.grobid-xml"},"referenced_works_count":14,"referenced_works":["https://openalex.org/W1490106730","https://openalex.org/W1511198581","https://openalex.org/W1968366571","https://openalex.org/W2020226714","https://openalex.org/W2035210653","https://openalex.org/W2051978340","https://openalex.org/W2056199822","https://openalex.org/W2124141753","https://openalex.org/W2203163745","https://openalex.org/W2335476877","https://openalex.org/W2523843207","https://openalex.org/W2792236328","https://openalex.org/W3029661147","https://openalex.org/W4310493904"],"related_works":["https://openalex.org/W2750345168","https://openalex.org/W2609171992","https://openalex.org/W2030711769","https://openalex.org/W2795172962","https://openalex.org/W2335476877","https://openalex.org/W2889985433","https://openalex.org/W4310781798","https://openalex.org/W2530152069","https://openalex.org/W7171413906","https://openalex.org/W4310493904"],"abstract_inverted_index":{"Transient":[0],"receptor":[1],"potential":[2,146],"vanilloid":[3],"1":[4],"(TRPV1)":[5],"is":[6,81],"a":[7,18,39,70,107,154],"ligand":[8],"and":[9,23,51,62,84,97,124,152],"heat-gated":[10],"ion":[11],"channel":[12],"expressed":[13],"on":[14],"nociceptors":[15],"that":[16,80],"plays":[17],"central":[19],"role":[20,156],"in":[21,29,120,160],"thermal":[22],"chemical":[24],"pain":[25],"signaling.":[26],"Loss-of-function":[27],"variants":[28],"TRPV1":[30,72,104,118],"have":[31,116],"been":[32],"associated":[33,149],"with":[34,42,150],"reduced":[35],"nociception.":[36],"We":[37],"report":[38],"65-year-old":[40],"woman":[41],"disabling":[43],"polyneurofunctional/neuropathic":[44],"symptomatology":[45],"including":[46,164],"migraine,":[47,121],"functional":[48,140],"gastrointestinal":[49],"disorders,":[50],"myalgic":[52],"encephalomyelitis/chronic":[53],"fatigue":[54],"syndrome":[55],"(ME/CFS).":[56],"Diagnostic":[57],"evaluation":[58],"revealed":[59],"sensory":[60],"polyneuropathy":[61],"autonomic":[63],"instability.":[64],"Whole":[65],"genome":[66],"sequencing":[67],"reanalysis":[68],"identified":[69],"heterozygous":[71],"c.2174A":[73],">":[74],"T":[75],"(p.Lys725Met)":[76],"Likely":[77],"Pathogenic":[78],"variant":[79,134],"very":[82],"rare":[83],"highly":[85],"conserved.":[86],"Our":[87],"patient":[88],"reports":[89],"consistent,":[90],"longstanding,":[91],"marked":[92],"hypersensitivity":[93],"to":[94],"heat,":[95],"capsaicin,":[96],"alcohol,":[98],"all":[99],"of":[100,132],"which":[101],"are":[102],"known":[103],"agonists,":[105],"supporting":[106],"gain-of-function":[108],"mechanism":[109],"for":[110,157],"this":[111],"variant.":[112],"Furthermore,":[113],"prior":[114],"studies":[115],"implicated":[117],"hyperactivity":[119],"nociceptive":[122],"sensitization,":[123],"ME/CFS.":[125,165],"Despite":[126],"the":[127,133,145],"excellent":[128],"clinical":[129],"correlation,":[130],"causality":[131],"cannot":[135],"be":[136],"definitively":[137],"established":[138],"without":[139],"studies.":[141],"This":[142],"case":[143],"expands":[144],"phenotypic":[147],"spectrum":[148],"TRPV1,":[151],"highlights":[153],"possible":[155],"TRPV1-mediated":[158],"channelopathies":[159],"complex":[161],"neurofunctional":[162],"disorders":[163]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2026-11-04T00:00:00"}
