Infantile neuroaxonal dystrophy caused by uniparental disomy.

Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6) gene. Affected individuals usually present between the ages of 6 months and 2 years with rapid cognitive and motor regression and axial hypotonia. Gait disturbance, limb spasticity, cerebellar signs, and optic atrophy are other common features associated with INAD. Although magnetic resonance imaging (MRI) can sometimes contribute towards the diagnosis, the confirmation of INAD is by Pla2G6 gene analysis. In this case report, we describe the first individual (female) with INAD 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 'gracile tubercle') as a useful MRI sign in INAD.

• Authors: Joyce Solomons, Oliver Ridgway, Carol Hardy, Manju A Kurian, Manju Kurian, Sandeep Jayawant, Sarah Hughes, Pieter Pretorius, Andrea H Németh
• Journal: Developmental medicine and child neurology (Dev Med Child Neurol) Vol. 56 Issue 4 Pg. 386-9 (Apr 2014) ISSN: 1469-8749 [Electronic] England
• PMID: 24628589 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 Mac Keith Press.

Chemical References

• Group VI Phospholipases A2
• PLA2G6 protein, human

Topics

• Female
• Group VI Phospholipases A2 (genetics)
• Humans
• Infant
• Magnetic Resonance Imaging
• Neuroaxonal Dystrophies (genetics)
• Uniparental Disomy (genetics, physiopathology)