{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:23:33Z","timestamp":1784903013073,"version":"3.55.0"},"reference-count":12,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T00:00:00Z","timestamp":1580169600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:p>Glycogen storage diseases (GSDs) result from the deficiency of enzymes involved in glycogen synthesis and breakdown into glucose. Mutations in the gene <jats:italic>PHKA2<\/jats:italic> encoding phosphorylase kinase regulatory subunit alpha 2 have been linked to GSD type IXa. We describe a family with two adult brothers with neonatal hepatosplenomegaly and later onset of hearing loss, cognitive impairment, and cerebellar involvement. Whole-exome sequencing was performed on both subjects and revealed a shared hemizygous missense variant (c.A1561G; p.T521A) in exon 15 of <jats:italic>PHKA2<\/jats:italic>. The phenotype broadens the clinical and magnetic resonance imaging spectrum of GSD type IXa to include later onset neurological manifestations.<\/jats:p>","DOI":"10.1017\/cjn.2020.18","type":"journal-article","created":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T08:48:10Z","timestamp":1580201290000},"page":"400-403","source":"Crossref","is-referenced-by-count":11,"title":["Neurological Involvement in Glycogen Storage Disease Type IXa due to <i>PHKA2<\/i> Mutation"],"prefix":"10.1017","volume":"47","author":[{"given":"Chelsea","family":"Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Care4Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jos\u00e9e","family":"Dicaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"La Piana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2020,1,28]]},"reference":[{"key":"S0317167120000189_ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1577-y"},{"key":"S0317167120000189_ref11","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1042\/EBC20170107","article-title":"Clinical syndromes associated with Coenzyme Q10 deficiency","volume":"62","author":"Alc\u00e1zar-Fabra","year":"2018","journal-title":"Essays Biochem"},{"key":"S0317167120000189_ref12","unstructured":"12. Schuelke, M . Ataxia with Vitamin E Deficiency. 2005 May 20 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020."},{"key":"S0317167120000189_ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"S0317167120000189_ref1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v13.i18.2541"},{"key":"S0317167120000189_ref10","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13740"},{"key":"S0317167120000189_ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0499-9"},{"key":"S0317167120000189_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.11.004"},{"key":"S0317167120000189_ref8","first-page":"52","article-title":"A new variant in PHKA2 is associated with glycogen storage disease type IXa","volume":"10","author":"Rodriguez-Jimenez","year":"2017","journal-title":"Mol Genet Metab"},{"key":"S0317167120000189_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.10.068"},{"key":"S0317167120000189_ref6","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"S0317167120000189_ref4","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2016-0342"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167120000189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,29]],"date-time":"2020-04-29T13:42:14Z","timestamp":1588167734000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167120000189\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,28]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["S0317167120000189"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2020.18","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,28]]}}}