Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment

Autor: Claudio Frank, Virginia Tancredi, Roberto Bei, Giovanna D'Arcangelo, Laura Masuelli, Ida Cariati
Rok vydání: 2021
Předmět:
Review
Disease
Settore MED/04
Type C
physical exercise
Pathognomonic
Miglustat
nutritional approach
Biology (General)
Cognitive decline
Spectroscopy
Neurodegeneration
neurodegeneration
Brain
Disease Management
Niemann-Pick Disease
Type C
General Medicine
Combined Modality Therapy
Computer Science Applications
Chemistry
Treatment Outcome
Disease Susceptibility
medicine.symptom
medicine.drug
Ataxia
QH301-705.5
Settore M-EDF/01
Clinical Decision-Making
Physical exercise
cognitive decline
lipid trafficking
Niemann-pick type C
pharmacological treatment
Settore BIO/09
Catalysis
Inorganic Chemistry
Niemann-Pick Disease
medicine
Animals
Humans
Cognitive Dysfunction
Physical and Theoretical Chemistry
QD1-999
Molecular Biology
Pathological
Niemann–Pick type C
business.industry
Organic Chemistry
medicine.disease
Nerve Degeneration
business
Neuroscience
Zdroj: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 6600, p 6600 (2021)
ISSN: 1422-0067
Popis: Niemann–Pick type C (NPC) disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol in the late endo-lysosomal system of cells. Progressive neurological deterioration and the onset of symptoms, such as ataxia, seizures, cognitive decline, and severe dementia, are pathognomonic features of the disease. In addition, different pathological similarities, including degeneration of hippocampal and cortical neurons, hyperphosphorylated tau, and neurofibrillary tangle formation, have been identified between NPC disease and other neurodegenerative pathologies. However, the underlying pathophysiological mechanisms are not yet well understood, and even a real cure to counteract neurodegeneration has not been identified. Therefore, the combination of current pharmacological therapies, represented by miglustat and cyclodextrin, and non-pharmacological approaches, such as physical exercise and appropriate diet, could represent a strategy to improve the quality of life of NPC patients. Based on this evidence, in our review we focused on the neurodegenerative aspects of NPC disease, summarizing the current knowledge on the molecular and biochemical mechanisms responsible for cognitive impairment, and suggesting physical exercise and nutritional treatments as additional non-pharmacologic approaches to reduce the progression and neurodegenerative course of NPC disease.
Databáze: OpenAIRE
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