Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren)

Muscle biopsy tissue from a patient affected by the juvenile form of neuron al ceroid lipofuscinosis (NCL) was studied immunohistochemically using anti bodies to beta-amyloid peptide and amyloid precursor protein. Positive reac tion in muscle was specifically localized to autophagic vacuoles and blood vessel walls. Increased acid phosphatase reaction suggested enhanced lysoso mal activity. We hypothesize that beta-amyloid is deposited in NCL muscle b y a lysosomal mechanism similar to that proposed in other disorders involvi ng beta-amyloid.