In nerve fascicles from skin and conjunctive biopsies from two siblings with hereditary chronic sensory-motor neuropathy with tomaculous changes (tomaculous neuropathy) we describe similar abnormalities to those found in sural nerve, consisting in thickenings of nerve fibres, with redundant loops of myelin and concentric apposition of enormous number of myelin lamellae. Our data demonstrate that, as previously reported in many neurometabolic or other abiotrophic diseases of the nervous system, skin and conjunctival biopsies may be a useful diagnostic tool also in this disorder, mainly when the diagnosis has to be confirmed in other family members, after one has been fully investigated by nerve biopsy, and when less invasive molecular genetic analyses on peripheral blood DNA have failed to reveal any known mutation associated with the disease

Federico, A., Malandrini, A. (1996). Skin and conjunctive biopsies as a useful diagnostic tool in tomaculous neuropathy. JOURNAL OF SUBMICROSCOPIC CYTOLOGY AND PATHOLOGY, 28(2), 171-174.

Skin and conjunctive biopsies as a useful diagnostic tool in tomaculous neuropathy

Federico, A.;Malandrini, A.
1996-01-01

Abstract

In nerve fascicles from skin and conjunctive biopsies from two siblings with hereditary chronic sensory-motor neuropathy with tomaculous changes (tomaculous neuropathy) we describe similar abnormalities to those found in sural nerve, consisting in thickenings of nerve fibres, with redundant loops of myelin and concentric apposition of enormous number of myelin lamellae. Our data demonstrate that, as previously reported in many neurometabolic or other abiotrophic diseases of the nervous system, skin and conjunctival biopsies may be a useful diagnostic tool also in this disorder, mainly when the diagnosis has to be confirmed in other family members, after one has been fully investigated by nerve biopsy, and when less invasive molecular genetic analyses on peripheral blood DNA have failed to reveal any known mutation associated with the disease
1996
Federico, A., Malandrini, A. (1996). Skin and conjunctive biopsies as a useful diagnostic tool in tomaculous neuropathy. JOURNAL OF SUBMICROSCOPIC CYTOLOGY AND PATHOLOGY, 28(2), 171-174.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/28791
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo