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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...

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Publisher copy:
10.1111/dmcn.12327

Authors


Solomons, J More by this author
Ridgway, O More by this author
Jayawant, S More by this author
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Publisher:
Blackwell Publishing Ltd
Journal:
Developmental Medicine and Child Neurology
Volume:
56
Issue:
4
Pages:
386-389
Publication date:
2014
DOI:
EISSN:
1469-8749
ISSN:
0012-1622
URN:
uuid:3b4e3ff1-61d9-4199-a0ad-b343f6d82ad1
Source identifiers:
472187
Local pid:
pubs:472187
Language:
English

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