Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C.
Niemann-Pick type C (NP-C) is a rare, neurodegenerative, lysosomal storage disease. Cortical excitability using different transcranial magnetic stimulation (TMS) protocols together with clinical and neuropsychological testing was longitudinally assessed in a patient with NP-C. Cerebellar inhibition, a measure for the integrity of the cerebello-thalamo-cortical network, was impaired. Short-latency afferent inhibition, a measure for cholinergic transmission, and cognitive functions were also impaired and improved under Miglustat treatment. Short interval intracortical facilitation, a marker for glutamatergic neurotransmission, was absent initially but increased after treatment with Miglustat. Our results provide new insights into pathophysiological mechanisms of NP-C and the response to Miglustat treatment.
['Hassan|Shady Safwat|SS|', 'Trenado|Carlos|C|', 'Elben|Saskia|S|', 'Schnitzler|Alfons|A|', 'Groiss|Stefan Jun|SJ|']
D017485:1-Deoxynojirimycin D002531:Cerebellum D003071:Cognition D000071080:Cortical Excitability D065089:Glycoside Hydrolase Inhibitors D006801:Humans D008297:Male D052556:Niemann-Pick Disease, Type C D050781:Transcranial Magnetic Stimulation D055815:Young Adult
Transcranial magnetic stimulation (TMS) Cerebellar inhibition (CBI) Niemann-Pick disease type C (NP-C) Short interval intracortical facilitation (SICF) Short-latency afferent inhibition (SAI)