A study on the prevalence of canine Lafora disease in Japan and analysis of its clinical features using the familial occurring pedigree

摘要

Canine Lafora disease (LD) is an autosomal recessive inherited disease characterized by late-onset, progressive myoclonus epilepsy and progressive neurological deterioration. Histologically, periodic acid Schiff-positive intracytoplasmic inclusions (Lafora bodies) caused by abnormal glycogen accumulation have been identified intracranially, particularly in the cerebellum and in the thalamic regions. Lafora bodies may also be present extracranially, for example, in the liver, spleen, lymph nodes, muscles and skin. Although the clinical diagnosis of canine LD is based on the histological finding of Lafora bodies in biopsy specimen, it is rare to detect it in clinically LD suspected dog. Therefore, the definitive diagnosis can only be made by postmortem examination. Additionally, it is absolutely difficult to diagnose in the early stage, because clinical signs are usually seen in dogs over 5 years of age.