Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis Bar syndrome.
The bioptical morphometric and ultrastructural study of sural nerve in a 17-year-old boy with ataxia-telangiectasia (AT) is reported. Our findings include a loss of fibers, particularly of large ones, axonal degenerative changes, Schwann cell inclusions of various type, and rare signs of primary demyelination. Teased-fiber study showed paranodal myelin enlargements, segmental demyelination, shortening, and/or variability of internodal length. This picture is similar to that in Friedreich's ataxia (FA), although they differ in degree and time of onset. A correct neuropathologic diagnosis of AT cannot be made on the basis of sural nerve biopsy alone.
Barbieri
F
F
Santoro
L
L
Crisci
C
C
Massini
R
R
Russo
E
E
Campanella
G
G
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000473:pathology*; D003094:Collagen / Q000378:metabolism; D005621:Friedreich Ataxia / Q000473:pathology*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000473:pathology*; D006801:Humans; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D012583:Schwann Cells / Q000378:metabolism / Q000648:ultrastructure; D013127:Spinal Nerves / Q000648:ultrastructure*; D013497:Sural Nerve / Q000648:ultrastructure*
D003094:Collagen