Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

We report data at basal (T0) and after 4  years (T4) of treatment with miglustat from two sisters (P1 and P2) affected by NPC disease. During the follow-up period, P1 was not adherent to treatment. Both patients underwent neurological evaluation, neuropsychological assessment, nerve conduction study and motor (MEP), visual (VEP), somatose nsory, and brainstem auditory evoked potentials. In the patient P2, neurological and electrophysiological evaluations at T4 were stable. Instead, the patient P1, with poor adherence to therapy, developed spasticity, psychiatric disturbances, and alterations of MEP and VEP. Neuropsychological examina tion showed in both patients a worsening of cognitive impairment. Our findings suggest that long-term therapy with miglustat does not arrest cognitive decline; otherwise, it stabilizes other neurological manifestations.
Source: Neurological Sciences - Category: Neurology Source Type: research