Niemann-Pick type C: a potentially treatable disorder?
Ammar Kheder1, Camilla Scott, Simon Olpin
1Academic Department of Neurosciences, Royal Hallamshire Hospital, , Sheffield, UK.
Practical Neurology
|August 3, 2013
Summary
Niemann-Pick type C is a lipid storage disorder affecting the brain. Miglustat shows promise in treating its neurological symptoms, improving eye movements and potentially other functions.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Niemann-Pick disease encompasses autosomal recessive lipid storage disorders.
- Niemann-Pick type C (NPC) is characterized by neurological manifestations extending beyond childhood.
Observation:
- NPC presents with variable clinical manifestations dependent on age of onset.
- Neurological symptoms include hypotonia, developmental delays, ataxia, cognitive deficits, and psychosis.
- Diagnosis requires identifying abnormal intracellular cholesterol trafficking via the filipin test.
Findings:
- Miglustat, an approved therapeutic, demonstrated improvements in horizontal saccadic eye movements.
- Miglustat showed a trend towards stabilizing or improving swallowing, hearing, and walking.
- NPC should be suspected in early-onset ataxia with cognitive decline, even without vertical gaze palsy.
Implications:
- Early consideration of NPC is crucial for timely diagnosis and intervention.
- Miglustat offers a targeted treatment option for neurological aspects of Niemann-Pick type C.
- Further research into NPC pathogenesis and therapeutic strategies is warranted.
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