Journal article
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
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Authors
Bibliographic Details
- Publisher:
- Blackwell Publishing Ltd
- Journal:
- Developmental Medicine and Child Neurology
- Volume:
- 56
- Issue:
- 4
- Pages:
- 386-389
- Publication date:
- 2014-01-01
- DOI:
- EISSN:
-
1469-8749
- ISSN:
-
0012-1622
- Source identifiers:
-
472187
Item Description
- Language:
- English
- Pubs id:
-
pubs:472187
- UUID:
-
uuid:3b4e3ff1-61d9-4199-a0ad-b343f6d82ad1
- Local pid:
- pubs:472187
- Deposit date:
- 2014-07-11
Terms of use
- Copyright date:
- 2014
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