BRAIN INVOLVEMENT IN MYOTONIC-DYSTROPHY - MRI FEATURES AND THEIR RELATIONSHIP TO CLINICAL AND COGNITIVE CONDITIONS

A prospective, case-control study was carried out on 25 patients with myotonic dystrophy (MyD) and 25 healthy subjects using brain magnetic resonance imaging (MRI). The frequency and severity of white matter hy perintense lesions (WMHL) and brain atrophy in MyD patients were compa red with their clinical features and cognitive impairment using an ext ensive neuropsychological battery. Eighty-four per cent of MyD patient s showed WMHL, compared with 16% of controls (p < 0.0001). These lesio ns involved all cerebral lobes, without hemispheric prevalence. Twenty -eight per cent of MyD patients also showed particular WMHL at their t emporal poles. Myotonic patients had significantly more cortical atrop hy than controls. No relationship between atrophy and WMHL was found o n the MRI scans. The extent of brain abnormalities (WMHL or atrophy) w as not correlated to age, disease duration, physical disability or sev erity of neuropsychological impairment. Central nervous system abnorma lities revealed by MRI appear to be an almost constant feature of MyD, but they are not found to be related to clinical or cognitive paramet ers. Their nature is still unclear: some of them, located at the tempo ral poles, seem to be characteristic of the disease, while others smal l, diffuse WMHLs, similar to the age related alterations revealed by M RI occurring during young and adult age in MyD patients.