{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:24:05Z","timestamp":1787502245382,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,2,24]],"date-time":"2020-02-24T00:00:00Z","timestamp":1582502400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    PHARC syndrome is a rare neurodegenerative disorder caused by mutations in the\n                    <jats:italic>ABHD12<\/jats:italic>\n                    gene. It is a genetically heterogeneous and clinically variable disease, which is characterized by demyelinating polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, and early\u2010onset cataract and can easily be misdiagnosed as other neurologic disorders with a similar clinical picture, such as Charcot\u2010Marie\u2010Tooth disease and Refsum disease. We describe the genotype\u2010phenotype correlation of two siblings with a novel genotype underlying PHARC syndrome. The genotype was identified using next\u2010generation sequencing. We examined both patients by means of thorough history taking and clinical examination, nerve conduction studies (NCS), brain imaging, and optical coherence tomography to establish a genotype\u2010phenotype correlation. We identified a novel homozygous point mutation (c.784C\u2009&gt;\u2009T, p.Arg262*) in the\n                    <jats:italic>ABHD12<\/jats:italic>\n                    gene. This mutation was detected in both siblings, who had bilateral hearing loss and cataracts, signs of cerebellar ataxia, and neuropathy with a primarily demyelinating pattern in NCS. In one case, retinitis pigmentosa was also evident. As PHARC syndrome is a rare autosomal recessive disorder, our findings highlight the importance of an interdisciplinary diagnostic workup with clinical and molecular genetic testing to avoid a misdiagnosis as Charcot\u2010Marie\u2010Tooth disease or Refsum disease.\n                  <\/jats:p>","DOI":"10.1111\/jns.12367","type":"journal-article","created":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T00:38:18Z","timestamp":1582159098000},"page":"112-116","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Genotype\u2010phenotype correlation in a novel\n                    <scp>\n                      <i>ABHD12<\/i>\n                    <\/scp>\n                    mutation underlying\n                    <scp>PHARC<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7806-9919","authenticated-orcid":false,"given":"Andreas","family":"Thimm","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Rahal","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schoen","sequence":"additional","affiliation":[{"name":"Medical Genetics Center  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Medical Genetics Center  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Klebe","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Kleinschnitz","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Hagenacker","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Stettner","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13318-017-0416-z"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000333664.90605.23"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12216"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2018.02.021"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.02.008"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415574513"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.226"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/379525"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-1716.2011.02280.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-59"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70110-3"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328364c04b"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-3042.2002.00766.x"}],"container-title":["Journal 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