Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Shady Safwat HassanStefan Jun Groiss

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.

Citations

Mar 15, 2018·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Stefano TozzaFiore Manganelli
Aug 17, 2018·Orphanet Journal of Rare Diseases·Mercè PinedaMarc C Patterson
Dec 14, 2018·Frontiers in Physiology·Valeriya V SolovyevaAlbert A Rizvanov
Sep 10, 2019·JIMD Reports·Alberto BenussiBarbara Borroni
May 23, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Giuseppa MarescaFrancesco Corallo

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