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Ataxia, Cerebellar, Neonatal, GRM1-related

General

Disease Name
Ataxia, Cerebellar, Neonatal, GRM1-related
Disease Name 2
Banderas Neonatal Ataxia (BNAt)
OMIA
78
Gene Name
GRM1
Mutation
c.2331_2332ins62bp
Mutation 2
c.1972T>C
Mutation 3
c.2331_2332ins62bp
OMIM
614831
Disease Code
BNAt
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Neonatal Ataxia
Details
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.
Details 2
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)
Published
Zeng, R., Farias, FH., Johnson, GS., McKay, SD., Schnabel, RD., Decker, JE., Taylor, JF., Mann, CS., Katz, ML., Johnson, GC., Coates, JR., O?Brien, DP.: A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera?s neonatal ataxia. J Vet Intern Med 25:267-72, 2011. Pubmed reference: 21281350. DOI: 10.1111/j.1939-1676.2010.0666.x
Published 2
Coates, J.R., O'Brien, D.P., Kline, K.L., Storts, R.W., Johnson, G.C., Shelton, G.D., Patterson, E.E., Abbott, L.C. : Neonatal cerebellar ataxia in Coton de Tulear dogs Journal of Veterinary Internal Medicine 16:680-9, 2002. Pubmed reference: 12465765.
Body/System/Process
Neurologic
Inheritance
AR
Gene Name Text
glutamate receptor, metabotropic 1
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