{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T04:05:41Z","timestamp":1751688341711,"version":"3.41.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"DOI":"10.1007\/s12311-025-01860-9","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T02:13:00Z","timestamp":1750299180000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) \u2013 A Case Report and Clinical-Focused Literature Review"],"prefix":"10.1007","volume":"24","author":[{"suffix":"Jr.","given":"Sergio Roberto","family":"Pereira da Silva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata Montes Garcia","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia Pontes","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lunielle","family":"da Cruz Caldeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"de Queiroz Omote","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Cl\u00e1udio","family":"da Costa Urbano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matheus Augusto Ara\u00fajo","family":"Castro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacy Bezerra","family":"Parmera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Magri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Freua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,6,19]]},"reference":[{"key":"1860_CR1","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1016\/j.ajhg.2010.08.002","volume":"87","author":"T Fiskerstrand","year":"2010","unstructured":"Fiskerstrand T, H\u2019mida-Ben Brahim D, Johansson S, et al. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism. Am J Hum Genet. 2010;87:410\u20137. https:\/\/doi.org\/10.1016\/j.ajhg.2010.08.002.","journal-title":"Am J Hum Genet"},{"key":"1860_CR2","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1212\/01.wnl.0000338560.38167.78","volume":"72","author":"T Fiskerstrand","year":"2009","unstructured":"Fiskerstrand T, Knappskog P, Majewski J, et al. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 2009;72:20\u20137. https:\/\/doi.org\/10.1212\/01.wnl.0000338560.38167.78.","journal-title":"Neurology"},{"key":"1860_CR3","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1016\/j.ophtha.2014.03.014","volume":"121","author":"KM Nishiguchi","year":"2014","unstructured":"Nishiguchi KM, Avila-Fernandez A, van Huet RAC, et al. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology. 2014;121:1620\u20137. https:\/\/doi.org\/10.1016\/j.ophtha.2014.03.014.","journal-title":"Ophthalmology"},{"issue":"4","key":"1860_CR4","doi-asserted-by":"publisher","first-page":"e60","DOI":"10.1111\/ene.12056","volume":"20","author":"C Criscuolo","year":"2013","unstructured":"Criscuolo C, Guacci A, Carbone R, Lieto M, Salsano E, Nanetti L, Michele GD, Filla A. Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population. Eur J Neurol. 2013;20(4):e60. https:\/\/doi.org\/10.1111\/ene.12056.","journal-title":"Eur J Neurol"},{"key":"1860_CR5","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12216","author":"J Lerat","year":"2017","unstructured":"Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS. A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. J Peripher Nerv Syst. 2017. https:\/\/doi.org\/10.1111\/jns.12216.","journal-title":"J Peripher Nerv Syst"},{"key":"1860_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2018.02.021","author":"M Frasquet","year":"2018","unstructured":"Frasquet M, Lupo V, Chumillas MJ, V\u00e1zquez-Costa JF, Espin\u00f3s C, Sevilla T. Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. J Neurol Sci. 2018. https:\/\/doi.org\/10.1016\/j.jns.2018.02.021.","journal-title":"J Neurol Sci"},{"key":"1860_CR7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22437","author":"DH Chen","year":"2013","unstructured":"Chen DH, Naydenov A, Blankman JL, et al. Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects. Hum Mutat. 2013. https:\/\/doi.org\/10.1002\/humu.22437.","journal-title":"Hum Mutat"},{"issue":"10424","key":"1860_CR8","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/S0140-6736(23)02706-X","volume":"403","author":"G Cypers","year":"2024","unstructured":"Cypers G, Tsitsi P. Retinitis pigmentosa and pes cavus in PHARC-polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract-syndrome in a 62-year-old man. Lancet. 2024;403(10424):391. https:\/\/doi.org\/10.1016\/S0140-6736(23)02706-X.","journal-title":"Lancet"},{"issue":"7","key":"1860_CR9","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/1750-1172-7-59","volume":"2","author":"T Eisenberger","year":"2012","unstructured":"Eisenberger T, Slim R, Mansour A, Nauck M, N\u00fcrnberg G, N\u00fcrnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis. 2012;2(7):59. https:\/\/doi.org\/10.1186\/1750-1172-7-59.","journal-title":"Orphanet J Rare Dis"},{"issue":"Suppl 1","key":"1860_CR10","doi-asserted-by":"publisher","first-page":"77S","DOI":"10.1177\/0003489415574513","volume":"124","author":"H Yoshimura","year":"2015","unstructured":"Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S. Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. Ann Otol Rhinol Laryngol. 2015;124(Suppl 1):77S-83S. https:\/\/doi.org\/10.1177\/0003489415574513.","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"1860_CR11","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.gene.2019.04.008","volume":"704","author":"T Li","year":"2019","unstructured":"Li T, Feng Y, Liu Y, et al. A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. Gene. 2019;704:113\u201320. https:\/\/doi.org\/10.1016\/j.gene.2019.04.008.","journal-title":"Gene"},{"issue":"2","key":"1860_CR12","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1111\/jns.12367","volume":"25","author":"A Thimm","year":"2020","unstructured":"Thimm A, Rahal A, Schoen U, Abicht A, Klebe S, Kleinschnitz C, Hagenacker T, Stettner M. Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome. J Peripher Nerv Syst. 2020;25(2):112\u20136. https:\/\/doi.org\/10.1111\/jns.12367.","journal-title":"J Peripher Nerv Syst."},{"key":"1860_CR13","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1186\/s12920-023-01682-w","volume":"16","author":"A Daneshi","year":"2023","unstructured":"Daneshi A, Garshasbi M, Farhadi M, et al. Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12. BMC Med Genomics. 2023;16:235. https:\/\/doi.org\/10.1186\/s12920-023-01682-w.","journal-title":"BMC Med Genomics"},{"key":"1860_CR14","doi-asserted-by":"publisher","first-page":"1404","DOI":"10.3390\/genes12091404","volume":"12","author":"XT Nguyen","year":"2021","unstructured":"Nguyen XT, et al. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. Genes. 2021;12:1404. https:\/\/doi.org\/10.3390\/genes12091404.","journal-title":"Genes"},{"key":"1860_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/13816810.2023.2289449","volume":"8","author":"S Demir","year":"2024","unstructured":"Demir S, Sevik MO, et al. PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature. Ophthalmic Genet. 2024Jan;8:1\u20137. https:\/\/doi.org\/10.1080\/13816810.2023.2289449.","journal-title":"Ophthalmic Genet"},{"key":"1860_CR16","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1002\/mdc3.13266","volume":"8","author":"PA Dias Bastos","year":"2021","unstructured":"Dias Bastos PA, Mendon\u00e7a M, Lampreia T, Magri\u00e7o M, Oliveira J, Barbosa R. PHARC Syndrome, a Rare Genetic Disorder-Case Report. Mov Disord Clin Pract. 2021;8:977\u20139. https:\/\/doi.org\/10.1002\/mdc3.13266.","journal-title":"Mov Disord Clin Pract"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01860-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-025-01860-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01860-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T06:44:50Z","timestamp":1751611490000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-025-01860-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,19]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["1860"],"URL":"https:\/\/doi.org\/10.1007\/s12311-025-01860-9","relation":{},"ISSN":["1473-4230"],"issn-type":[{"type":"electronic","value":"1473-4230"}],"subject":[],"published":{"date-parts":[[2025,6,19]]},"assertion":[{"value":"22 May 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 June 2025","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"We confirm that we have read the Journal\u2019s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained prior to the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent"}},{"value":"The authors declare that there are no additional disclosures to report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosures"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"120"}}