Tag archives: Canine Batten disease

Neuronal Ceroid Lipofuscinosis (NCL) is a group of inherited mammalian diseases characterized by abnormal accumulations of a metabolic byproduct known as lipofuscin in nerve cells and various organs of the body.  The accumulation of lipofuscin eventually leads to progressive nerve cell dysfunction and severe neurological symptoms including behavioral changes, balance issues, muscle atrophy, uncoordinated movement, blindness, head tremors and seizures.  Other organ systems can also be affected to various degrees depending on the severity of lipofuscin build up.  Most dogs will die due the disease or are euthanized when neurologic problems progress to the point of preventing normal daily activities.  While most types of NCL begin to cause clinical signs around 1 to 2 years of age in dogs, the age of onset and speed of progression vary significantly upon the type of NCL.  Variable presentation and progression among NCL types is expected given that multiple genes can cause this clinical condition.

Unfortunately, details about disease incidence and prevalence within a breed are often difficult to obtain including NCL.  Without going into an in-depth discussion about statistics, among other conditions, in order to estimate incidence and prevalence of disease for an entire population, individuals ...

The neuronal ceroid lipofuscinoses are a group of inherited lysosomal storage disorders.  Lysosomes are structures in cells referred to as the stomach of the cell that breakdown waste products and other byproducts in the cell.  NCL affected dogs lack one of several enzymes necessary for the normal breakdown of certain types of fat or protein in the cells (called lipopigments.)  As this "debris" accumulates in neuronal cells (and to a lesser extent in other cells), the animal's mental and motor functions deteriorate.

Dogs with NCL start out as apparently normal and fully functional dogs.  Depending on which subtype of NCL they have, they will begin developing symptoms anywhere from 6 months to 4-6 years of age (for the adult onset varieties).  NCL is found in both humans and dogs as well as other species and share symptoms that include a progressive loss of mental and physical nervous system functions.    These exhibit as mental/intellectual decline and motor disturbance progressing to seizures, motor problems such as lack of muscle coordination, abnormal gait, difficulty balancing, visual disturbances progressing to blindness and behavioral changes including aggressiveness, dementia, aimless wandering behavior with episodes of confusion, depression and ...