{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:56:43Z","timestamp":1790657803538,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A&gt;T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism. Clinicians should consider CHCHD2 in familial dementia with pyramidal signs, even when motor parkinsonism is absent.<\/jats:p>","DOI":"10.1002\/ccr3.73644","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:18:58Z","timestamp":1790655538000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.\n                    <scp>395A<\/scp>\n                    &gt;T; p.\n                    <scp>Lys132Met<\/scp>\n                    Mutation in\n                    <scp>CHCHD2<\/scp>"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1675-681X","authenticated-orcid":false,"given":"Mehri","family":"Salari","sequence":"first","affiliation":[{"name":"School of Medicine Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arash","family":"Soltani","sequence":"additional","affiliation":[{"name":"Student Research Committee Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoud","family":"Etemadifar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0451-3175","authenticated-orcid":false,"given":"Kamran","family":"Rezaei","sequence":"additional","affiliation":[{"name":"Student Research Committee Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,28]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"crossref","first-page":"1498756","DOI":"10.3389\/fnagi.2024.1498756","article-title":"Global, Regional, National Epidemiology and Trends of Parkinson's Disease From 1990 to 2021: Findings From the Global Burden of Disease Study 2021","volume":"16","author":"Luo Y.","year":"2025","journal-title":"Frontiers in Aging Neuroscience"},{"issue":"1","key":"e_1_2_14_3_1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1186\/s12889-023-15018-x","article-title":"The Burden of Parkinson's Disease in the Middle East and North Africa Region, 1990\u20132019: Results From the Global Burden of Disease Study 2019","volume":"23","author":"Safiri S.","year":"2023","journal-title":"BMC Public Health"},{"issue":"8","key":"e_1_2_14_4_1","doi-asserted-by":"crossref","first-page":"3651","DOI":"10.1007\/s10072-025-08206-7","article-title":"Burden of Parkinson's Disease in Iran: Disparities, Trends, and the Impact of Social Development Indicators","volume":"46","author":"Sarmadi M.","year":"2025","journal-title":"Neurological Sciences"},{"issue":"2","key":"e_1_2_14_5_1","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/s10072-025-08632-7","article-title":"National and Subnational Burden of Neurological Disorders in Iran, 1990 to 2021: Results From the Global Burden of Disease Study 2021","volume":"47","author":"Ilaghi M.","year":"2026","journal-title":"Neurological Sciences"},{"issue":"5","key":"e_1_2_14_6_1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S.","year":"2015","journal-title":"Genetics in Medicine"},{"issue":"1","key":"e_1_2_14_7_1","doi-asserted-by":"crossref","first-page":"6739236","DOI":"10.1155\/2017\/6739236","article-title":"MNRR1, a Biorganellar Regulator of Mitochondria","volume":"2017","author":"Grossman L. 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