Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).
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.
Laboratory of Neuropathology, Institute of Neurological Sciences, University of Siena, Italy.
M
M
Villanova
C
C
Ceuterick
M T
MT
Dotti
F M
FM
Santorelli
C
C
Casali
A
A
Malandrini
N
N
De Stefano
U
U
Lübke
J J
JJ
Martin
G C
GC
Guazzi
A
A
Federico
D000328:Adult; D016229:Amyloid beta-Peptides / Q000378:metabolism*; D016564:Amyloid beta-Protein Precursor / Q000378:metabolism*; D001706:Biopsy; D005453:Fluorescence; D006801:Humans; D007150:Immunohistochemistry; D008607:Intellectual Disability / Q000150:complications; D008214:Lymphocytes / Q000473:pathology; D008268:Macular Degeneration / Q000150:complications; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D012640:Seizures / Q000150:complications; D012867:Skin / Q000473:pathology; D014617:Vacuoles / Q000473:pathology
D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor