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Leucodystrophy

General

Disease Name
Leucodystrophy
Mutation
c.14474G>A
Mutation 2
p.V98M
Test Type
Genetic Disease/Disorder
Details
Leucodystrophy is a progressive neurological condition. Symptoms include: slow weight gain, a distincitive wide stance, incoordination, tremors - especially of the tail, weakness in the legs, seizures, blindness, deafness, complete loss of motor control, death. Age of onset 2-9 weeks. Lack of treatments, pain, and low quality of life mean most dogs are euthanised by 6 months.
Details 2
Affected dogs... developed tremors at 2-9 weeks of age followed by progressive neurological worsening with ataxia, paresis, paralysis, spasticity, and cranial nerve dysfunction. The modes of inheritance of both families were most likely maternal. The cerebrospinal fluid (CSF) analysis showed elevated ratio of 3-OH butyrate to acetoacetic acid. (From Li et al, 2006)
Published
Li, FY., Cuddon, PA., Song, J., Wood, SL., Patterson, JS., Shelton, GD., Duncan, ID. : Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Neurobiol Dis 21:35-42, 2006. Pubmed reference: 16026996. DOI: 10.1016/j.nbd.2005.06.009.
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