Disease overview

The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases. Lysosomes digest and remove waste from the cells, so when they malfunction, large molecules build up in cells and cause neurological issues. NCL7 is a slowly progressive form of the disease with juvenile to adult onset of signs.

Gene name

MFSD8

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will develop neurologic signs around one year of age. Clinical signs include blindness, progressive behavioral changes, abnormal gait (ataxia), and seizures. This disease is slowly progressive.

How is it diagnosed

A veterinarian will conduct a thorough exam, as well as review health history and any clinical signs. However, clinical signs are typically non-specific, requiring further testing, such as advanced imaging and/or spinal taps. Genetic testing can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs. A definitive diagnosis of neuronal ceroid lipofuscinosis, however, is made post-mortem through necropsy of brain tissue.

Breeds at higher risk

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Citations

Guo J, O'Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res. 2015 Jan 3;10:960. doi: 10.1186/s12917-014-0181-z. PMID: 25551667; PMCID: PMC4298050.

Ashwini A, D'Angelo A, Yamato O, Giordano C, Cagnotti G, Harcourt-Brown T, Mhlanga-Mutangadura T, Guo J, Johnson GS, Katz ML. Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Mol Genet Metab. 2016 Aug;118(4):326-32. doi: 10.1016/j.ymgme.2016.05.008. Epub 2016 May 13. PMID: 27211611.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.