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Neuronal Ceroid Lipofuscinosis 12 (NCL12)

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

General

Disease Name
Neuronal Ceroid Lipofuscinosis 12 (NCL12)
Mutation
c.1623delG
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Published
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
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