{"id":"https://openalex.org/W7213780373","doi":"https://doi.org/10.7759/cureus.116575","title":"Imaging Characteristics in the Ataxia-Neuropathy Spectrum Related to POLG Mutation","display_name":"Imaging Characteristics in the Ataxia-Neuropathy Spectrum Related to POLG Mutation","publication_year":2026,"publication_date":"2026-09-20","ids":{"openalex":"https://openalex.org/W7213780373","doi":"https://doi.org/10.7759/cureus.116575","pmid":"https://pubmed.ncbi.nlm.nih.gov/42903362","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13681239"},"language":"en","primary_location":{"id":"doi:10.7759/cureus.116575","doi":"https://doi.org/10.7759/cureus.116575","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.116575","pdf_url":"https://www.cureus.com/articles/536116-imaging-characteristics-in-the-ataxia-neuropathy-spectrum-related-to-polg-mutation.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.cureus.com/articles/536116-imaging-characteristics-in-the-ataxia-neuropathy-spectrum-related-to-polg-mutation.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090834013","display_name":"Abraham Alhatou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I168451400","display_name":"Lincoln Memorial University","ror":"https://ror.org/02qma2225","country_code":"US","type":"education","lineage":["https://openalex.org/I168451400"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Abraham Alhatou","raw_affiliation_strings":["Medical School, Lincoln Memorial University - DeBusk College of Osteopathic Medicine, Knoxville, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical School, Lincoln Memorial University - DeBusk College of Osteopathic Medicine, Knoxville, USA","institution_ids":["https://openalex.org/I168451400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139353728","display_name":"Omar Mohammed Alhatou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I248769658","display_name":"Royal College of Surgeons in Ireland - Bahrain","ror":"https://ror.org/01h4bh480","country_code":"BH","type":"education","lineage":["https://openalex.org/I142762351","https://openalex.org/I248769658"]}],"countries":["BH"],"is_corresponding":true,"raw_author_name":"Omar M Alhatou","raw_affiliation_strings":["Medical School, Royal College of Surgeons in Ireland - Bahrain, Bahrain, BHR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical School, Royal College of Surgeons in Ireland - Bahrain, Bahrain, BHR","institution_ids":["https://openalex.org/I248769658"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050149480","display_name":"Mohamed Ghamoodi","orcid":"https://orcid.org/0000-0002-5079-1125","observed_orcids":["https://orcid.org/0000-0002-5079-1125"]},"institutions":[{"id":"https://openalex.org/I49828101","display_name":"Hamad Medical Corporation","ror":"https://ror.org/02zwb6n98","country_code":"QA","type":"nonprofit","lineage":["https://openalex.org/I49828101"]}],"countries":["QA"],"is_corresponding":false,"raw_author_name":"Mohamed Ghamoodi","raw_affiliation_strings":["Neurology Department, Hamad Medical Corporation, Al-Khor, QAT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Department, Hamad Medical Corporation, Al-Khor, QAT","institution_ids":["https://openalex.org/I49828101"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5152273335","display_name":"Mohammed Alhatou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I49828101","display_name":"Hamad Medical Corporation","ror":"https://ror.org/02zwb6n98","country_code":"QA","type":"nonprofit","lineage":["https://openalex.org/I49828101"]}],"countries":["QA"],"is_corresponding":false,"raw_author_name":"Mohammed Alhatou","raw_affiliation_strings":["Neurology Department, Hamad Medical Corporation, Doha, QAT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Department, Hamad Medical Corporation, Doha, QAT","institution_ids":["https://openalex.org/I49828101"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5139353728"],"corresponding_institution_ids":["https://openalex.org/I248769658"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.59219886,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"18","issue":"9","first_page":"e116575","last_page":"e116575"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.8241999745368958,"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":0.8241999745368958,"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":0.09470000118017197,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.05290000140666962,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/polg-mutations","display_name":"POLG mutations","score":0.972000002861023},{"id":"https://openalex.org/keywords/mitochondrial-dna-polymerase-gamma","display_name":"mitochondrial DNA polymerase gamma","score":0.9810000061988831},{"id":"https://openalex.org/keywords/sensory-ataxia","display_name":"sensory ataxia","score":0.7990000247955322},{"id":"https://openalex.org/keywords/peripheral-sensory-neuropathy","display_name":"peripheral sensory neuropathy","score":0.8650000095367432},{"id":"https://openalex.org/keywords/thalamic-hyperintensity","display_name":"thalamic hyperintensity","score":0.8289999961853027},{"id":"https://openalex.org/keywords/mri-imaging-features","display_name":"MRI imaging features","score":0.4959999918937683},{"id":"https://openalex.org/keywords/phenotypic-heterogeneity","display_name":"phenotypic heterogeneity","score":0.8370000123977661},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.5379999876022339}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8425999879837036},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6147000193595886},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.453900009393692},{"id":"https://openalex.org/C156778621","wikidata":"https://www.wikidata.org/wiki/Q1365748","display_name":"Spectrum (functional analysis)","level":2,"score":0.42329999804496765},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.28299999237060547},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.26019999384880066},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.259799987077713},{"id":"https://openalex.org/C159047783","wikidata":"https://www.wikidata.org/wiki/Q7215","display_name":"Virology","level":1,"score":0.23839999735355377},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.23720000684261322},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.2354000061750412}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.7759/cureus.116575","doi":"https://doi.org/10.7759/cureus.116575","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.116575","pdf_url":"https://www.cureus.com/articles/536116-imaging-characteristics-in-the-ataxia-neuropathy-spectrum-related-to-polg-mutation.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13681239","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13681239/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13681239/pdf/cureus-0018-00000116575.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":"Cureus","raw_type":"Text"},{"id":"pmid:42903362","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42903362","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":"Cureus","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.7759/cureus.116575","doi":"https://doi.org/10.7759/cureus.116575","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.116575","pdf_url":"https://www.cureus.com/articles/536116-imaging-characteristics-in-the-ataxia-neuropathy-spectrum-related-to-polg-mutation.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7213780373.pdf","grobid_xml":"https://content.openalex.org/works/W7213780373.grobid-xml"},"referenced_works_count":9,"referenced_works":["https://openalex.org/W2015762546","https://openalex.org/W2035015379","https://openalex.org/W2079092178","https://openalex.org/W2110230480","https://openalex.org/W2115955029","https://openalex.org/W2256016639","https://openalex.org/W2342860044","https://openalex.org/W2900457101","https://openalex.org/W3029661147"],"related_works":["https://openalex.org/W2342860044","https://openalex.org/W2018872765","https://openalex.org/W4386957781","https://openalex.org/W2013586223","https://openalex.org/W4416365509","https://openalex.org/W2079092178","https://openalex.org/W7222883533","https://openalex.org/W3026640041","https://openalex.org/W4416092167","https://openalex.org/W4318263401"],"abstract_inverted_index":{"Mutations":[0],"in":[1,55,104,119],"the":[2,17,56,105,120],"mitochondrial":[3],"DNA":[4],"polymerase":[5],"gamma":[6],"(POLG)":[7],"gene":[8],"cause":[9],"a":[10,33,45,66,83,115,124,149],"broad":[11],"spectrum":[12,19],"of":[13,48,126,142],"neurodegenerative":[14],"disorders,":[15],"including":[16],"ataxia-neuropathy":[18],"(ANS).":[20],"Substantial":[21],"phenotypic":[22],"heterogeneity":[23],"and":[24,65,74,98,108],"overlapping":[25],"clinical":[26,151],"features":[27],"can":[28],"delay":[29],"diagnosis.":[30],"We":[31],"report":[32],"38-year-old":[34],"woman":[35],"with":[36,44],"no":[37],"significant":[38],"past":[39],"medical":[40],"history":[41,47],"who":[42],"presented":[43],"three-year":[46],"slowly":[49],"progressive":[50],"sensory":[51,63,86],"ataxia":[52],"that":[53],"worsened":[54],"dark.":[57],"Examination":[58],"revealed":[59],"mild":[60,84],"dysarthria,":[61],"large-fiber":[62],"loss,":[64],"positive":[67],"Romberg":[68],"sign.":[69],"Extensive":[70],"metabolic,":[71],"toxic,":[72],"autoimmune,":[73],"infectious":[75],"work-up":[76],"was":[77],"unrevealing.":[78],"Nerve":[79],"conduction":[80],"studies":[81],"confirmed":[82,114],"peripheral":[85],"neuropathy.":[87],"Brain":[88],"magnetic":[89],"resonance":[90],"imaging":[91,130],"(MRI)":[92],"demonstrated":[93],"distinct":[94],"bilateral,":[95],"symmetric":[96],"T2-weighted":[97],"fluid-attenuated":[99],"inversion":[100],"recovery":[101],"(FLAIR)":[102],"hyperintensities":[103],"dorsomedial":[106],"thalami":[107],"cerebellar":[109],"white":[110],"matter.":[111],"Whole-exome":[112],"sequencing":[113],"homozygous":[116],"W748S":[117],"mutation":[118],"POLG":[121],"gene,":[122],"establishing":[123],"diagnosis":[125],"POLG-related":[127,136],"ANS.":[128],"This":[129],"pattern,":[131],"though":[132],"not":[133],"specific":[134],"to":[135],"disease,":[137],"may":[138],"support":[139],"earlier":[140],"consideration":[141],"targeted":[143],"genetic":[144],"testing":[145],"when":[146],"present":[147],"alongside":[148],"compatible":[150],"picture.":[152]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-09-21T00:00:00"}