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Hereditary neuropathy with liability to pressure palsies.
Attarian S, Fatehi F, Rajabally YA, Pareyson D. Attarian S, et al. J Neurol. 2020 Aug;267(8):2198-2206. doi: 10.1007/s00415-019-09319-8. Epub 2019 Apr 15. J Neurol. 2020. PMID: 30989370 Review.
Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve cond
Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor
The PMP22 gene and its related diseases.
Li J, Parker B, Martyn C, Natarajan C, Guo J. Li J, et al. Mol Neurobiol. 2013 Apr;47(2):673-98. doi: 10.1007/s12035-012-8370-x. Epub 2012 Dec 7. Mol Neurobiol. 2013. PMID: 23224996 Free PMC article. Review.
Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot-Marie-Tooth type-1A (CMT1A) with trisomy of PMP22, hereditary
Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % o …
[Hereditary Polyneuropathies].
Ferbert A, Roth C. Ferbert A, et al. Fortschr Neurol Psychiatr. 2020 Mar;88(3):198-209. doi: 10.1055/a-1009-2270. Epub 2020 Mar 31. Fortschr Neurol Psychiatr. 2020. PMID: 32232809 Review. German.
Hereditary neuropathies are a group of diseases of which the most prevalent is Charcot Marie Tooth disease (CMT). ...The two most common forms are CMT1A induced by duplication of the PMP22 gene and hereditary neuropathy with liability to pressure pa
Hereditary neuropathies are a group of diseases of which the most prevalent is Charcot Marie Tooth disease (CMT). ...The two most com
Charcot-Marie-Tooth syndrome.
Chance PF, Pleasure D. Chance PF, et al. Arch Neurol. 1993 Nov;50(11):1180-4. doi: 10.1001/archneur.1993.00540110060006. Arch Neurol. 1993. PMID: 8215977 Review.
Missense mutations in PMP-22 are also responsible for two forms of demyelinative polyneuropathy in mice, trembler and trembler. Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent …
Missense mutations in PMP-22 are also responsible for two forms of demyelinative polyneuropathy in mice, trembler and trembler. Hereditar
Inherited neuropathies.
Chance PF, Reilly M. Chance PF, et al. Curr Opin Neurol. 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. Curr Opin Neurol. 1994. PMID: 7804455 Review.
Dejerine-Sottas disease is a severe, infantile-onset demyelinating polyneuropathy that may be associated with point mutations in either the PMP22 gene or the P0 gene. Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episo …
Dejerine-Sottas disease is a severe, infantile-onset demyelinating polyneuropathy that may be associated with point mutations in either the …
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. van Paassen BW, et al. Orphanet J Rare Dis. 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38. Orphanet J Rare Dis. 2014. PMID: 24646194 Free PMC article. Review.
PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing b …
PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, lead …
Hereditary neuralgic amyotrophy.
Meuleman J, Timmerman V, Van Broeckhoven C, De Jonghe P. Meuleman J, et al. Neurogenetics. 2001 Jul;3(3):115-8. doi: 10.1007/s100480100109. Neurogenetics. 2001. PMID: 11523561 Review.
Hereditary neuralgic amyotrophy (HNA) belongs to the group of recurrent focal neuropathies, the other major representative being hereditary neuropathy with liability to pressure palsies. ...At present, we can only speculate how such very diverse
Hereditary neuralgic amyotrophy (HNA) belongs to the group of recurrent focal neuropathies, the other major representative being h
Hereditary neuralgic amyotrophy.
Chance PF, Windebank AJ. Chance PF, et al. Curr Opin Neurol. 1996 Oct;9(5):343-7. doi: 10.1097/00019052-199610000-00005. Curr Opin Neurol. 1996. PMID: 8894409 Review.
Hereditary neuralgic amyotrophy with predilection for the brachial plexus is an autosomal dominant disorder associated with recurrent, episodic, painful brachial neuropathies. ...The feature of brachial neuropathy is shared with hereditary neuropathy with liabili
Hereditary neuralgic amyotrophy with predilection for the brachial plexus is an autosomal dominant disorder associated with recurrent
Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Cao W, Huang S, Zhao H, Li Z, Zhu X, Liu L, Zhang R. Cao W, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Oct 28;48(10):1572-1582. doi: 10.11817/j.issn.1672-7347.2023.230116. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 38432886 Free PMC article. Review. Chinese, English.
OBJECTIVES: Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy, usually caused by heterozygous deletion mutations in the peripheral myelin protein 22 (PMP22) gene. ...Sanger sequencing or ne …
OBJECTIVES: Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant periphera …
Inherited peripheral neuropathy.
Keller MP, Chance PF. Keller MP, et al. Semin Neurol. 1999;19(4):353-62. doi: 10.1055/s-2008-1040850. Semin Neurol. 1999. PMID: 10716658 Review.
Hereditary disorders of the peripheral nerves constitute a group of frequently encountered neurological diseases. ...Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that results in a recurrent, e
Hereditary disorders of the peripheral nerves constitute a group of frequently encountered neurological diseases. ...Hereditary
57 results