HNPP: clinical features
Evidence-based neurology checklist on hnpp: clinical features: Genetics HNPP is caused by PMP22 gene deletion on chromosome 17p The transmission is autosomal dominant The onset is in the 2nd to 3rd decades Clinical features Frequently affected peripheral nerves Occasionally affected cranial nerves…
Genetics
- HNPP is caused by PMP22 gene deletion on chromosome 17p
- The transmission is autosomal dominant
- The onset is in the 2nd to 3rd decades
Clinical features
Frequently affected peripheral nerves
Occasionally affected cranial nerves
Unusual HNPP presentations
Acronym
References
- Horowitz SH, Spollen LE, Yu W. Hereditary neuropathy with liability to pressure palsy: the development with axonal loss during military training. JNNP 2004; 75:1629-1631.
- van Paassen B, van der Kooi A, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis 2014; 9:38.
- Mouton P, Tardieu S, Gouider R, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999; 52:1440-1446.
- Cortese A, Piccolo G, Lozza A, Schreiber A, Callegari I, Moglia A, Alfonsi E, Pareyson D. Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP). Neuromuscul Disord 2016; 26:455-458.
- Lorenzoni PJ, Scola RH, Cardoso J, et al. Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies. Arq Neuropsiquiatr 2008; 66:898-900.
- And 3 more. Subscribe to see the full list
