PMID- 19138334
OWN - NLM
STAT- MEDLINE
DCOM- 20090428
LR  - 20221207
IS  - 1468-1331 (Electronic)
IS  - 1351-5101 (Linking)
VI  - 16
IP  - 2
DP  - 2009 Feb
TI  - Clinical study and PLA2G6 mutation screening analysis in Chinese patients with 
      infantile neuroaxonal dystrophy.
PG  - 240-5
LID - 10.1111/j.1468-1331.2008.02397.x [doi]
AB  - BACKGROUND AND PURPOSE: Infantile neuroaxonal dystrophy (INAD) is a rare 
      autosomal recessive neurodegenerative disorder. The most typical 
      neuropathological finding of this disease is axonal swelling. Before the 
      identification of associated mutations in PLA2G6-encoding iPLA(2)-VIA (cytosolic 
      Ca(2+)-independent phospholipids A(2), group VIA) in 2006, neuropathological 
      evidence was critical for definitive diagnosis. Only five genetic studies in INAD 
      patients have been published worldwide, wherein 44 mutations were reported. To 
      define the clinical and genetic characteristics of Chinese patients with INAD, 10 
      cases were analyzed. METHODS: For 10 cases of INAD, extensive clinical 
      investigations, neuropathological examination, and mutation screening in PLA2G6 
      were performed. RESULTS: All cases displayed typical clinical features. Axonal 
      swelling was found in skin or sural nerve biopsy specimens in three cases. Twelve 
      PLA2G6 mutations were identified, nine of which were novel. These novel mutations 
      include six missense, one abolishing the normal start codon, one nonsense, and 
      one splice-site mutation. CONCLUSIONS: The nine novel mutations identified in 
      this study suggest the uniqueness of the PLA2G6 mutation spectrum in Chinese 
      patients, and greatly extends the spectrum of known mutations in INAD patients. 
      In addition to pathological evidence, genetic analysis can inform definitive 
      diagnosis of INAD.
FAU - Wu, Y
AU  - Wu Y
AD  - Department of Pediatrics, Peking University, First Hospital, Beijing, China.
FAU - Jiang, Y
AU  - Jiang Y
FAU - Gao, Z
AU  - Gao Z
FAU - Wang, J
AU  - Wang J
FAU - Yuan, Y
AU  - Yuan Y
FAU - Xiong, H
AU  - Xiong H
FAU - Chang, X
AU  - Chang X
FAU - Bao, X
AU  - Bao X
FAU - Zhang, Y
AU  - Zhang Y
FAU - Xiao, J
AU  - Xiao J
FAU - Wu, X
AU  - Wu X
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20081209
PL  - England
TA  - Eur J Neurol
JT  - European journal of neurology
JID - 9506311
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Asian People/genetics
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Electromyography
MH  - Female
MH  - Genetic Testing
MH  - Group VI Phospholipases A2/*genetics
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mutation
MH  - Neuroaxonal Dystrophies/*genetics/*pathology/physiopathology
MH  - Polymerase Chain Reaction
EDAT- 2009/01/14 09:00
MHDA- 2009/04/29 09:00
CRDT- 2009/01/14 09:00
PHST- 2009/01/14 09:00 [entrez]
PHST- 2009/01/14 09:00 [pubmed]
PHST- 2009/04/29 09:00 [medline]
AID - ENE2397 [pii]
AID - 10.1111/j.1468-1331.2008.02397.x [doi]
PST - ppublish
SO  - Eur J Neurol. 2009 Feb;16(2):240-5. doi: 10.1111/j.1468-1331.2008.02397.x. Epub 
      2008 Dec 9.