Document Detail


Infantile neuroaxonal dystrophy caused by uniparental disomy.
MedLine Citation:
PMID:  24628589     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-11-15
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  56     ISSN:  1469-8749     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2014 Apr 
Date Detail:
Created Date:  2014-03-17     Completed Date:  2014-05-06     Revised Date:  2014-07-23    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  386-9     Citation Subset:  IM    
Copyright Information:
© 2013 Mac Keith Press.
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MeSH Terms
Descriptor/Qualifier:
Female
Group VI Phospholipases A2 / genetics
Humans
Infant
Magnetic Resonance Imaging
Neuroaxonal Dystrophies / genetics*
Uniparental Disomy / genetics,  physiopathology*
Chemical
Reg. No./Substance:
EC 3.1.1.4/Group VI Phospholipases A2; EC 3.1.1.4/PLA2G6 protein, human
Comments/Corrections
Erratum In:
Dev Med Child Neurol. 2014 Jul;56(7):698
Note: Kurian, Manju [corrected to Kurian, Manju A]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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