Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C. (January 2018)

• Record Type: Journal Article
• Authors: Hassan, Shady Safwat; Trenado, Carlos; Elben, Saskia; Schnitzler, Alfons; Groiss, Stefan Jun
• Is Part Of: Journal of clinical neuroscience. Volume 47(2018)
• Page Start: 214
• Page End: 217
• Publication Date: 2018-01
• Subjects: Niemann-Pick disease type C (NP-C) -- Transcranial magnetic stimulation (TMS) -- Cerebellar inhibition (CBI) -- Short interval intracortical facilitation (SICF) -- Short-latency afferent inhibition (SAI); Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2017.10.011
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: New insights into pathophysiological mechanisms in patients with NP-C are provided. Impairment of cerebellar inhibition suggests Purkinje cell affection in NP-C. Affection of glutamatergic and cholinergic networks may be improved by Miglustat. TMS may be useful as biomarker of NP-C severity and Miglustat response. Abstract: 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.