NEUROPHYSIOLOGICAL ABNORMALITIES IN ADRENOLEUKODYSTROPHY CARRIERS - EVIDENCE OF DIFFERENT DEGREES OF CENTRAL-NERVOUS-SYSTEM INVOLVEMENT

We studied 19 women, heterozygous for adrenoleukodystrophy (ALD) in wh om the carrier status was demonstrated by abnormally high plasma level s of very-long-chain fatty acids. Clinical examination revealed slight neurological signs in two patients, clear-cut neurological deficits i n three, and it was fully normal in the remaining 14. All subjects und erwent motor evoked potential (MEP) and somatosensory evoked potential (SEP) studies. Seventeen out of 19 subjects underwent brain MRI which demonstrated various degrees of abnormality in one asymptomatic and J ive symptomatic subjects; SEPs and MEPs revealed CNS involvement in 12 and 8 out of the 19 subjects, respectively Symptomatic patients showe d severe neurophysiological abnormalities whereas milder but unequivoc al EP abnormalities were Sound in seven of the 14 patients with normal clinical examination. Our data thus suggest CNS involvement in the ma jority of the ALD carriers, evident also in preclinical stages and pro gressively severe. The possibility of assessing different degrees of n eurological involvement could be relevant for therapeutical purposes. Moreover neurophysiological studies could provide the only objective m arker of functional nervous system involvement, e.g. in order to monit or the efficacy of treatment and in clinically and radiologically sile nt cases.