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Neuronal Ceroid Lipofuscinosis 6 (NCL6)

Breeds

General

Disease Name
Neuronal Ceroid Lipofuscinosis 6 (NCL6)
Mutation
c.829T>C
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. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
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. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
Published
Katz,ML.,Farias,FH.,Sanders,DN.,Zeng,R.,Khan,S.,Johnson,GS.,O'Brien,DP.: AmissensemutationincanineCLN6inanAustralianshepherdwithneuronalceroidlipofuscinosis.JBiomedBiotechnol2011:198042,2011.Pubmedreference:21234413.DOI:10.1155/2011/198042.
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