Niemann Pick C (NPC): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Niemann Pick C (NPC): clinical features. NPC1: this accounts for 95% of cases, NPC2. Fully referenced neurology checklist.
Genetic mutations
- NPC1: this accounts for 95% of cases
- NPC2
Pathological features
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Onset features
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Movement disorders
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Other neurological features
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Psychiatric features
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Ophthalmic features
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Systemic features
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Differential diagnosis
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References
- Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract 2017; 7:499-511.
- Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009; 98:152-165.
- Sevin M, Lesca G, Baumann N, et al. The adult form of Niemann-Pick disease type C. Brain 2007; 130:120-133.
- Goez HR, Jacob FD, Fealey RD, et al. An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. J Child Neurol 2011; 26:518-521.
- Devaraj R, Mahale RR, Sindhu DM, et al. Spectrum of movement disorders in Niemann-Pick disease type C. Tremor Other Hyperkinet Mov (N Y) 2022; 12:28.
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