hereditary sensory and motor neuropathy
Summary: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Karadima G, Kokotis P, Kalfakis N, Vassilopoulos D, Panas M. Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background?. J Clin Neurosci. 2013;20:1042 pubmed publisher
Hirt N, Eggermann K, Hyrenbach S, Lambeck J, Busche A, Fischer J, et al
. Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion. Neurology. 2015;84:1605-6 pubmed publisher
Mathieu J, Bédard F, Prevost C, Langevin P. [Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases]. Can J Neurol Sci. 1990;17:103-8 pubmed
..These observations support the hypothesis of a single genetic syndrome in which the constant manifestation is the motor and sensory neuropathy. ..
Overweg Plandsoen W, Brouwer Mladin R, Merel P, de Vries L, Bijlsma E. Neurofibromatosis type 2 in an adolescent boy with polyneuropathy and a mutation in the NF2 gene. J Neurol. 1996;243:724-6 pubmed
Milovidova T, Dadali E, Fedotov V, Shchagina O, Poliakov A. [Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]. Zh Nevrol Psikhiatr Im S S Korsakova. 2011;111:48-55 pubmed
..Diagnostic criteria of these genetic variants have been formed. The new allelic variants of HMSN caused by mutations in the MPZ (P0) gene are described. The distribution of mutations by protein domains has been analyzed. ..
Scarlato M, Viganò F, Carrera P, Previtali S, Bolino A. A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2. J Peripher Nerv Syst. 2015;20:419-21 pubmed publisher
Perez Y, Shorer Z, Liani Leibson K, Chabosseau P, Kadir R, Volodarsky M, et al
. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017;140:928-939 pubmed publisher
Li J, Niu B, Wang X, Hu H, Cao B. A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis. Medicine (Baltimore). 2017;96:e6922 pubmed publisher
..The findings indicate that diabetes mellitus may have an impact on the severity of HNPP. Physicians should consider that worsening of symptoms might result from newly diagnosed diabetes mellitus while treating patients with HNPP. ..
Nakamura T, Kawarabayashi T, Seino Y, Shoji M. A case of hereditary neuropathy with liability to pressure palsies due to push-up exercise. Rinsho Shinkeigaku. 2017;57:383-386 pubmed publisher
..HNPP should be included in the differential diagnosis for neuropathy due to slight exercise or nerve compression even when familial history is negative. ..