Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C.
J Clin Neurosci
; 47: 214-217, 2018 Jan.
Article
en En
| MEDLINE
| ID: mdl-29074317
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Métodos Terapéuticos y Terapias MTCI:
Terapias_biologicas
/
Aromoterapia
Asunto principal:
1-Desoxinojirimicina
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Enfermedad de Niemann-Pick Tipo C
/
Inhibidores de Glicósido Hidrolasas
Tipo de estudio:
Guideline
Idioma:
En
Revista:
J Clin Neurosci
Año:
2018
Tipo del documento:
Article
País de afiliación:
Egipto