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Ataxia, Cerebellar, Neonatal, GRM1-related
Banderas Neonatal Ataxia (BNAt)
Ataxia, Cerebellar, Neonatal, GRM1-related
  Discussion

Ataxia seems to come in breed-related, or breed-specific types. Puppies appear to have a normal mental status, but with eye tremors, nodding from the head, body tremors, and severe gait effects. Most affected puppies are unable to stand and use "swimming" movements. Age of onset from around 2 weeks. The condition was nonprogressive at least until 4 months of age. Symptoms include normal mental status, head titubation, intention tremors, and severe gait, stance, and ocular ataxia beginning at 2 weeks of age. Affected pups are unable to stand and used propulsive movements (??swimming??), with frequent falling to lateral recumbency with subsequent decerebellate posturing and paddling. Ocular motor abnormalities included fine vertical tremors at rest and saccadic dysmetria. The condition was nonprogressive at least until 4 months of age. (from Coates et al. 2002)

  Genetics
Inheritance
AR
OMIA
000078
OMIA Variant
000693
OMIA URL
https://www.omia.org/OMIA000078/9615/
OMIN
614831
Gene
GRM1
Variants
c.2331_2332ins62bp; c.1972T>C; c.2331_2332ins62bp
Variants Comments
"a 62-bp truncated retrotransposon insert in exon 8"
  Testing
Test Types
Genetic-Genomic
Assessments
Breed-Specific
Specific Genetic Test
Genetic Traits Test
Assays
dwn_cnd_
Connections
  • Updated
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