PMID- 20653033
OWN - NLM
STAT- MEDLINE
DCOM- 20101025
LR  - 20211020
IS  - 1096-9861 (Electronic)
IS  - 0021-9967 (Print)
IS  - 0021-9967 (Linking)
VI  - 518
IP  - 18
DP  - 2010 Sep 15
TI  - Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system 
      dysfunction and cerebellar hypoplasia.
PG  - 3771-84
LID - 10.1002/cne.22423 [doi]
AB  - Neuroaxonal dystrophy in brainstem, spinal cord tracts, and spinal nerves 
      accompanied by cerebellar hypoplasia was observed in a colony of laboratory dogs. 
      Fetal akinesia was documented by ultrasonographic examination. At birth, affected 
      puppies exhibited stereotypical positioning of limbs, scoliosis, arthrogryposis, 
      pulmonary hypoplasia, and respiratory failure. Regional hypoplasia in the central 
      nervous system was apparent grossly, most strikingly as underdeveloped cerebellum 
      and spinal cord. Histopathologic abnormalities included swollen axons and 
      spheroids in brainstem and spinal cord tracts; reduced cerebellar foliation, 
      patchy loss of Purkinje cells, multifocal thinning of the external granular cell 
      layer, and loss of neurons in the deep cerebellar nuclei; spheroids and loss of 
      myelinated axons in spinal roots and peripheral nerves; increased myocyte 
      apoptosis in skeletal muscle; and fibrofatty connective tissue proliferation 
      around joints. Breeding studies demonstrated that the canine disorder is a fully 
      penetrant, simple autosomal recessive trait. The disorder demonstrated a type and 
      distribution of lesions homologous to that of human infantile neuroaxonal 
      dystrophy (INAD), most commonly caused by mutations of phospholipase A2 group VI 
      gene (PLA2G6), but alleles of informative markers flanking the canine PLA2G6 
      locus did not associate with the canine disorder. Thus, fetal-onset neuroaxonal 
      dystrophy in dogs, a species with well-developed genome mapping resources, 
      provides a unique opportunity for additional disease gene discovery and 
      understanding of this pathology.
FAU - Fyfe, John C
AU  - Fyfe JC
AD  - Laboratory of Comparative Medical Genetics, Department of Microbiology & 
      Molecular Genetics, Michigan State University, East Lansing, Michigan 48824, USA. 
      fyfe@cvm.msu.edu
FAU - Al-Tamimi, Raba' A
AU  - Al-Tamimi RA
FAU - Castellani, Rudy J
AU  - Castellani RJ
FAU - Rosenstein, Diana
AU  - Rosenstein D
FAU - Goldowitz, Daniel
AU  - Goldowitz D
FAU - Henthorn, Paula S
AU  - Henthorn PS
LA  - eng
GR  - RR02512/RR/NCRR NIH HHS/United States
GR  - R21 NS041989-03/NS/NINDS NIH HHS/United States
GR  - R21 NS041989-02/NS/NINDS NIH HHS/United States
GR  - P40 RR002512-228560/RR/NCRR NIH HHS/United States
GR  - R21 NS041989/NS/NINDS NIH HHS/United States
GR  - P40 RR002512-210044/RR/NCRR NIH HHS/United States
GR  - NS41989/NS/NINDS NIH HHS/United States
GR  - R21 NS041989-01A2/NS/NINDS NIH HHS/United States
GR  - P40 RR002512-200044/RR/NCRR NIH HHS/United States
GR  - P40 RR002512/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Comp Neurol
JT  - The Journal of comparative neurology
JID - 0406041
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Animals
MH  - Animals, Newborn
MH  - Brain Stem/abnormalities/pathology/physiopathology
MH  - *Cerebellar Diseases/genetics/pathology/physiopathology
MH  - *Cerebellum/abnormalities/pathology/physiopathology
MH  - *Dog Diseases/genetics/pathology/physiopathology
MH  - Dogs
MH  - Female
MH  - Genetic Association Studies
MH  - Genetic Markers
MH  - Humans
MH  - Male
MH  - *Neuroaxonal Dystrophies/genetics/pathology/physiopathology
MH  - Pedigree
MH  - Pregnancy
PMC - PMC3006439
MID - NIHMS223716
EDAT- 2010/07/24 06:00
MHDA- 2010/10/26 06:00
PMCR- 2011/09/15
CRDT- 2010/07/24 06:00
PHST- 2010/07/24 06:00 [entrez]
PHST- 2010/07/24 06:00 [pubmed]
PHST- 2010/10/26 06:00 [medline]
PHST- 2011/09/15 00:00 [pmc-release]
AID - 10.1002/cne.22423 [doi]
PST - ppublish
SO  - J Comp Neurol. 2010 Sep 15;518(18):3771-84. doi: 10.1002/cne.22423.