Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy.
An immunohistochemical and ultrastructural analysis of dystrophic axons (DAs) in the brain and peripheral nerve of a patient with familial infantile neuroaxonal dystrophy (INAD) and in the brain of a patient with familial Hallervorden-Spatz Disease (HSD) revealed prevalent membrano-tubular or granulo-vesicular profiles with a graded pattern of evolution in INAD, while dense bodies, vesicles and amorphous material were present in HSD. DAs immunoreactivity with tai-protein and 200 kDa-neurofilament antibodies was stronger in HSD than in INAD. In both cases immunohistochemistry was positive for ubiquitin and negative for beta-tubulin and beta-amyloid. Distinct ultrastructural features and immunoreactivity pattern of cytoskeletal components suggest different pathogenetic mechanisms.
Institute of Neurological Sciences, University of Siena, Italy.
A
A
Malandrini
T
T
Cavallaro
G M
GM
Fabrizi
G
G
Berti
R
R
Salvestroni
C
C
Salvadori
G C
GC
Guazzi
D001369:Axons / Q000737:chemistry* / Q000648:ultrastructure*; D001921:Brain / Q000473:pathology; D002648:Child; D003598:Cytoskeletal Proteins / Q000032:analysis; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009136:Muscular Dystrophies / Q000473:pathology*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology
D003598:Cytoskeletal Proteins