Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.

ABSTRACT: The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs. The NCLs are characterized by progressive cognitive and motor decline, vision loss, seizures, respiratory and swallowing impairment, and ultimately premature death. Different forms of NCL result from mutations in at least 13 genes. The clinical signs of some forms overlap significantly, so genetic testing is the only way to definitively determine which form an individual patient suffers from. At present, an effective treatment is available for only one form of NCL. Evidence of NCL has been documented in over 20 canine breeds and in mixed-breed dogs. To date, 12 mutations in 8 different genes orthologous to the human NCL gene

SUBMITTER: Katz ML 

PROVIDER: S-EPMC5675811 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature