57,48 47,50 IVA esclusa

H410

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and may ultimately be cause for euthanasia on humane grounds.

Giorni lavorativi10

€ 5,95 costi di gestione e spedizione (IVA inclusa)

Specifiche

Razza

,

Gene

Organo

Campione

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Tipo di Ereditarietà

Autosomal Recessive

Cromosoma

1

Tipo di Ereditarietà

BNAt; NCA

Anno di pubblicazione

Informazioni generali

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and may ultimately be cause for euthanasia on humane grounds. This variant, known as Neonatal Cerebellar Ataxia (NCA) and sometimes as as Bandera’s Neonatal Ataxia (BNAt), is an autosomal recessive disease found in Coton de Tulear and Havanese dogs. It is caused by a mutation to the gene GRM1.

Caratteristiche cliniche

Neurologic examination shows head titubation, intention tremors, severe gait and ocular ataxia at two weeks of age. Most puppies are unable to walk and use propulsive movements for goal-oriented activities. The puppies would fall to lateral recumbency with consecutive decerebellate paddling and posturing.

Informazioni aggiuntive

Phenotypically related ataxias dogs could have a mutation in another gene variant, including ATP1B2, CAPN1, ITPR1, KCNJ10, RAB24, SEL1L, SNX14 and SPTBN2.

Riferimenti

Pubmed ID: 21281350

Omia ID: 78

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