Peripheral nerve involvement in ataxia telangiectasia: histological and ultrastructural studies of peroneal nerve biopsy in two cases.
The authors report a histological and electron-microscopic study of the peripheral nerve in two cases of ataxia-telangiectasia showing fiber loss, storage material in Schwann cells and nuclear changes. Nuclear changes are the most typical finding and are correlated with the primary metabolic disorder of DNA repair.
Malandrini
A
A
Istituto di Scienze Neurologiche, Università di Siena, Italy.
Guazzi
G C
GC
Alessandrini
C
C
Federico
A
A
D001259:Ataxia / Q000150:complications*; D001706:Biopsy; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000473:pathology; D010543:Peroneal Nerve / Q000473:pathology; D013577:Syndrome; D013684:Telangiectasis / Q000150:complications*