Magnetic resonance imaging in “typical” and “late onset” Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes

Abstract

MRI makes it possible to study the in vivo brain and spinal cord morphology of patients with hereditary ataxia. We performed T1-and T2-weighted studies in eleven patients with Friedreich's disease (FD), five with “late onset” FD and ten with early onset cerebellar ataxia with retained tendon reflexes (EOCA). Cervical cord atrophy was constant in FD and “late onset” FD and often associated with atrophy of the cerebellum and of the brainstem; T2-weighted studies showed posterior column degeneration in the cervical cord. The most frequent finding in EOCA was cerebellar atrophy, pure or associated with cervical cord or brainstem atrophy; the cerebellar atrophy was marked in a few cases and was related to disease duration.

Sommario

La Risonanza Magnetica permette lo studio morfologico “in vivo” dell'encefalo e del midollo spinale nei pazienti con atassia ereditaria. Noi abbiamo eseguito uno studio con immagini T1- e T2-pesate in 11 pazienti con Malattia di Freidreich (MF), 5 con MF ad esordio tardivo e 10 con atassia cerebellare ad esordio precoce con conservazione dei riflessi osteotendinei (Early Onset Cerebellar Ataxia with retained tendon reflexes, EOCA).

L'atrofia del midollo cervicale era costante in MF ed MF ad esordio tardivo, spesso in associazione con atrofia cerebellare e del tronco. Le immagini T2-pesate mostravano degenerazione dei cordoni posteriori nel midollo cervicale.

In EOCA il reperto più frequente era l'atrofia cerebellare, pura od in associazione con atrofia del midollo cervicale o del tronco. L'atrofia cerebellare in EOCA era marcata in pochi casi ed era correlata con la durata di malattia.