Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.
Deborah Moreira RangelMatias Carvalho Aguiar MeloJosé Luiz PedrosoOrlando Graziani Povoas BarsottiniManoel Alves Sobreira-NetoPedro Braga NetoPublished in: Cerebellum (London, England) (2021)
Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.
Keyphrases
- living cells
- single molecule
- mental health
- clinical trial
- sleep quality
- end stage renal disease
- chronic kidney disease
- newly diagnosed
- spinal cord injury
- ejection fraction
- physical activity
- insulin resistance
- peritoneal dialysis
- case report
- prognostic factors
- randomized controlled trial
- current status
- intellectual disability
- metabolic syndrome
- type diabetes
- skeletal muscle
- cerebral ischemia
- urinary tract
- blood brain barrier
- placebo controlled
- respiratory tract