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Neurofibrillary tangles in Niemann-Pick disease type C
S Love1, L R Bridges, C P Case
1Department of Neuropathology, Frenchay Hospital, Bristol, UK.
Brain : a Journal of Neurology
|February 1, 1995
Summary
Neurofibrillary tangles, similar to those in Alzheimer's disease, are a common finding in Niemann-Pick disease type C. These tangles may form as a reaction to abnormal storage material in the brain.
Area of Science:
- Neuropathology
- Neurodegenerative Diseases
- Biochemistry
Background:
- Niemann-Pick disease type C (NPC) is a rare genetic disorder characterized by the accumulation of lipids in cells.
- The neuropathological hallmarks of NPC are not fully understood, particularly concerning protein aggregation.
Observation:
- Post-mortem examination of five Niemann-Pick disease type C cases revealed widespread neurofibrillary tangles.
- Tangles were consistently found in the hippocampus, hypothalamus, substantia innominata, midbrain, pons, and medulla.
- Electron microscopy showed tangles composed of paired helical filaments, identical to those in Alzheimer's disease.
Findings:
- Neurofibrillary tangles containing tau protein and ubiquitin were identified in multiple brain regions.
- The distribution of tangles correlated with abnormal storage material in the central nervous system.
- No amyloid plaques or cerebral amyloid angiopathy were detected.
Implications:
- Neurofibrillary tangles are a common neuropathological feature of Niemann-Pick disease type C.
- Tangle formation may be a response to the storage material characteristic of the disease.
- This finding deepens the understanding of Niemann-Pick disease type C pathogenesis.