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Neuronal Ceroid Lipofuscinosis 1 (NCL1)

Breeds

General

Disease Name
Neuronal Ceroid Lipofuscinosis 1 (NCL1)
Mutation
c.4009C>T
Mutation 2
c.736_737insC
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. Severe vision loss or full blindness. By 9 months of age weakness, trouble balancing, difficulty walking, a rounded back, nervousness and disorientation
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. Severe vision loss or full blindness. By 9 months of age weakness, trouble balancing, difficulty walking, a rounded back, nervousness and disorientation
Published
Sanders, DN., Farias, FH., Johnson, GS., Chiang, V., Cook, JR., O'Brien, DP., Hofmann, SL., Lu, JY., Katz, ML. : A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dac
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