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Neuronal Ceroid Lipofuscinosis 2 (NCL2)

General

Disease Name
Neuronal Ceroid Lipofuscinosis 2 (NCL2)
Mutation
c.325delC
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. Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Death by 12 months 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. Vision loss, difficulty see in dim light. Difficulty with balancing and walking, tremors, muscle twitching, seizures. Hyperactivity, aggression, and a decline cognitive abilities. Death by 12 months of age.
Published
Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89:254-60, 2006. Pubmed reference: 16621647. DOI: 10.1016/j.ymgme.2006.02.016.
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