PMID- 24628589
OWN - NLM
STAT- MEDLINE
DCOM- 20140506
LR  - 20140723
IS  - 1469-8749 (Electronic)
IS  - 0012-1622 (Linking)
VI  - 56
IP  - 4
DP  - 2014 Apr
TI  - Infantile neuroaxonal dystrophy caused by uniparental disomy.
PG  - 386-9
LID - 10.1111/dmcn.12327 [doi]
AB  - 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.
CI  - (c) 2013 Mac Keith Press.
FAU - Solomons, Joyce
AU  - Solomons J
AD  - Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals 
      Leicester, UK; Department of Cancer Studies & Molecular Medicine, University of 
      Leicester, Leicester, UK; Department of Clinical Genetics, Oxford University 
      Hospitals NHS Trust, Oxford, UK.
FAU - Ridgway, Oliver
AU  - Ridgway O
FAU - Hardy, Carol
AU  - Hardy C
FAU - Kurian, Manju A
AU  - Kurian MA
FAU - Jayawant, Sandeep
AU  - Jayawant S
FAU - Hughes, Sarah
AU  - Hughes S
FAU - Pretorius, Pieter
AU  - Pretorius P
FAU - Nemeth, Andrea H
AU  - Nemeth AH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20131115
PL  - England
TA  - Dev Med Child Neurol
JT  - Developmental medicine and child neurology
JID - 0006761
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
EIN - Dev Med Child Neurol. 2014 Jul;56(7):698. Kurian, Manju [corrected to Kurian, 
      Manju A]
MH  - Female
MH  - Group VI Phospholipases A2/genetics
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - Neuroaxonal Dystrophies/*genetics
MH  - Uniparental Disomy/genetics/*physiopathology
EDAT- 2014/03/19 06:00
MHDA- 2014/05/07 06:00
CRDT- 2014/03/18 06:00
PHST- 2013/09/14 00:00 [accepted]
PHST- 2014/03/18 06:00 [entrez]
PHST- 2014/03/19 06:00 [pubmed]
PHST- 2014/05/07 06:00 [medline]
AID - 10.1111/dmcn.12327 [doi]
PST - ppublish
SO  - Dev Med Child Neurol. 2014 Apr;56(4):386-9. doi: 10.1111/dmcn.12327. Epub 2013 
      Nov 15.