{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T20:50:45Z","timestamp":1782852645645,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T00:00:00Z","timestamp":1384473600000},"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":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>Infantile neuroaxonal dystrophy (<jats:styled-content style=\"fixed-case\">INAD<\/jats:styled-content>) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (<jats:italic>Pla2G6<\/jats:italic>) gene. Affected individuals usually present between the ages of 6\u00a0months and 2\u00a0years with rapid cognitive and motor regression and axial hypotonia. Gait disturbance, limb spasticity, cerebellar signs, and optic atrophy are other common features associated with <jats:styled-content style=\"fixed-case\">INAD<\/jats:styled-content>. Although magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) can sometimes contribute towards the diagnosis, the confirmation of <jats:styled-content style=\"fixed-case\">INAD<\/jats:styled-content> is by <jats:italic>Pla2G6<\/jats:italic> gene analysis. In this case report, we describe the first individual (female) with <jats:styled-content style=\"fixed-case\">INAD<\/jats:styled-content> due to a combination of uniparental heterodisomy and isodisomy; we discuss the possible underlying mechanism and highlight the importance of parental carrier testing in accurately predicting the recurrence risk in these families. We also confirm the recent report of hypertrophy of the clava (also known as the \u2018gracile tubercle\u2019) as a useful <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> sign in <jats:styled-content style=\"fixed-case\">INAD<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/dmcn.12327","type":"journal-article","created":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T10:33:54Z","timestamp":1384511634000},"page":"386-389","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Infantile neuroaxonal dystrophy caused by uniparental disomy"],"prefix":"10.1111","volume":"56","author":[{"given":"Joyce","family":"Solomons","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Leicester Royal Infirmary University Hospitals Leicester UK"},{"name":"Department of Cancer Studies &amp; Molecular Medicine University of Leicester Leicester UK"},{"name":"Department of Clinical Genetics Oxford University Hospitals NHS Trust Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Ridgway","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory Birmingham Women's NHS Foundation Trust Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Hardy","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory Birmingham Women's NHS Foundation Trust Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju","family":"Kurian","sequence":"additional","affiliation":[{"name":"Neurosciences Unit Institute of Child Health Great Ormond Street Hospital University College London &amp; Department of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep","family":"Jayawant","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Children's Hospital Oxford University Hospitals NHS Trust Headington UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Children's Hospital Oxford University Hospitals NHS Trust Headington UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pieter","family":"Pretorius","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology John Radcliffe Hospital Oxford University Hospitals NHS Trust Headington UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea H","family":"N\u00e9meth","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Nuffield Department of Clinical Neurosciences Oxford University Hospitals NHS Trust and University of Oxford John Radcliffe Hospital Headington Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,15]]},"reference":[{"key":"e_1_2_10_2_1","unstructured":"GregoryA KurianMA MaherER HogarthP HayflickSJ.Infantile Neuroaxonal Dystrophy. 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