In other species: Mallard , crab-eating macaque , dog , domestic ferret , domestic cat , horse , pig , taurine cattle , goat , sheep

Categories: Lysosomal storage disease , Nervous system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: The neuronal ceroid lipofuscinoses (NCLs) are a heterogenous group of inherited neurodegenerative diseases characterised by brain and retinal atrophy and the accumulation of autofluorescent lipopigment in neurons and many other cells within the body. Clinical features of NCL are abnormal behavior, dementia, loss of vision, motor disturbances and seizures, and premature death. See also gene specific entries including OMIA:001504 (PPT1-related), OMIA:001472 (TPP1-related), OMIA:002432 (CLN3-related), OMIA:001482 (CLN5-related), OMIA:001443 (CLN6-related), OMIA:001962 (CLN7/MFSD8-related), OMIA:001506 (CLN8-related), OMIA:001505 (CTSD10-related) and OMIA:001552 (ATP13A2-related).

Species-specific symbol: NCL

Species-specific description: Neurological signs and histopathological findings were typical of NCL, but concurrent finding of a small nodular tumour in the bird’s cranial nerves may have caused the neurological signs. Several related birds were observed to show similar clinical signs, but unfortunately they were not available for post mortem. (contributed by Izmira Ismail on 13 Feb 2009)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: The lovebird was presented with a history of incoordination, loss of balance and intermittent convulsive seizures. The bird died after a convulsion. (contributed by Izmira Ismail on 13 Feb 2009)

Pathology: At necropsy, no gross lesions were observed except for a small nodular tumor in the cranial nerves located closely to the brain stem. The tumor was identified as a Schwann cell tumour. Microscopically, haematoxylin and eosin (H&E) stained storage bodies were found in the cytoplasm of the bird’s brain and spinal cord nerve cells. The storage bodies were acid fast, stained positive with Periodic acid Schiff (PAS) and emitted fluorescence under ultraviolet light. Many of the affected neurons were found to be degenerated. (contributed by Izmira Ismail on 13 Feb 2009)