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

M Villanova; C Ceuterick; M T Dotti; F M Santorelli; C Casali; A Malandrini; N De Stefano; U Lübke; J J Martin; G C Guazzi; A Federico

doi:10.1007/s004010051053

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

Acta Neuropathol. 1999 Jul;98(1):78-84. doi: 10.1007/s004010051053.

Authors

M Villanova¹, C Ceuterick, M T Dotti, F M Santorelli, C Casali, A Malandrini, N De Stefano, U Lübke, J J Martin, G C Guazzi, A Federico

Affiliation

¹ Laboratory of Neuropathology, Institute of Neurological Sciences, University of Siena, Italy.

PMID: 10412803
DOI: 10.1007/s004010051053

Abstract

Muscle biopsy tissue from a patient affected by the juvenile form of neuronal ceroid lipofuscinosis (NCL) was studied immunohistochemically using antibodies to beta-amyloid peptide and amyloid precursor protein. Positive reaction in muscle was specifically localized to autophagic vacuoles and blood vessel walls. Increased acid phosphatase reaction suggested enhanced lysosomal activity. We hypothesize that beta-amyloid is deposited in NCL muscle by a lysosomal mechanism similar to that proposed in other disorders involving beta-amyloid.

Publication types

Case Reports

MeSH terms

Adult
Amyloid beta-Peptides / metabolism*
Amyloid beta-Protein Precursor / metabolism*
Biopsy
Fluorescence
Humans
Immunohistochemistry
Intellectual Disability / complications
Lymphocytes / pathology
Macular Degeneration / complications
Male
Muscle Fibers, Skeletal / pathology
Muscles / metabolism*
Muscles / pathology
Neuronal Ceroid-Lipofuscinoses / complications
Neuronal Ceroid-Lipofuscinoses / metabolism*
Neuronal Ceroid-Lipofuscinoses / pathology
Seizures / complications
Skin / pathology
Vacuoles / pathology

Substances

Amyloid beta-Peptides
Amyloid beta-Protein Precursor