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Neuronal Ceroid Lipofuscinosis 12 (NCL12)

General

Disease Name
Neuronal Ceroid Lipofuscinosis 12 (NCL12)
OMIA
1552
Gene Name
ATP13A2
Mutation
c.1623delG
Disease Code
NCL12
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
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
ATPase type 13A2
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