Hereditary motor and sensory neuropathy
|Hereditary motor and sensory neuropathy|
|Classification and external resources|
Hereditary motor and sensory neuropathies (HMSN) are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication.
|Type||Other names||Diseases Database||OMIM|
|HMSN1||Charcot–Marie–Tooth disease type 1||5815||(multiple)|
|HMSN2||Charcot–Marie–Tooth disease type 2||2343||(multiple)|
Charcot–Marie–Tooth disease type 3
|HMSN5||Charcot–Marie–Tooth disease with pyramidal features
HMSN with pyramidal features
|HMSN6||Charcot–Marie–Tooth disease type 6
HMSN with optic atrophy
Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement, a Rare Form of HMSN'
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder that is defined by extensive involuntary and spontaneous muscle contractions, asthenia, and atrophy with distal sensory involvement following. The disease starts presenting typically in the 40s and is succeeded by a slow and continuous onslaught. Muscle spasms and muscle contractions large in number are noted, especially in the earliest stages. The presentation of HMSN-P is quite similar to ALS(amyotrophic lateral sclerosis), and has common neuropathological findings. sensory loss happens as the disease progresses, but the amount of sensation lost varies from case to case. There have been other symptoms of HMSN-P reported such as urinary disturbances, and a dry cough.
Two large families in Japan have been identified with the disease locus to chromosome 3q. From descendants of Japan, HMSN-P was brought to Brazil, from there it is a pretty isolated disease. Through clinical studies, researchers identified that TFG mutations on chromosome 3q13.2 causes HMSN-P. "The presence of TFG/ubiquitin- and/or TDP-43-immunopositive cytoplasmic inclusions in motor neurons and cytosolic aggregation composed of TDP-43 in cultured cells expressing mutant TFG indicate a novel pathway of motor neuron death" (Hiroyuki).
- Houlden H, Blake J, Reilly MM (October 2004). "Hereditary sensory neuropathies". Curr. Opin. Neurol. 17 (5): 569–77. doi:10.1097/00019052-200410000-00007. PMID 15367861.
- "eMedicine - Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies : Article by Aamir Hashmat".
- Dyck PJ, Lambert EH (June 1968). "Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies". Arch. Neurol. 18 (6): 603–18. PMID 4297451.
- Horacek, O.; Mazanec, R.; Morris, C. E.; Kobesova, A. (2007). "Spinal Deformities in Hereditary Motor and Sensory Neuropathy". Spine 32 (22): 2502–2508. doi:10.1097/BRS.0b013e3181573d4e. PMID 18090092.
- Bertorini, T.; Narayanaswami, P.; Rashed, H. (2004). "Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies". The Neurologist 10 (6): 327–337. doi:10.1097/01.nrl.0000145596.38640.27. PMID 15518599.
PATROCLO, Cristiane Borges et al. Autosomal dominant HMSN with proximal involvement: new Brazilian cases. Arq. Neuro-Psiquiatr. [online]. 2009, vol.67, n.3b [cited 2013-05-02], pp. 892–896 . Available from: <http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000500021&lng=en&nrm=iso>. ISSN 0004-282X. http://dx.doi.org/10.1590/S0004-282X2009000500021.
Lee S, Lee H, Park J, et al. Proximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused Gene. JAMA Neurol. 2013;():1-9. doi:10.1001/jamaneurol.2013.1250.
Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, Garth A. Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsuji, The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement, The American Journal of Human Genetics, Volume 91, Issue 2, 10 August 2012, Pages 320-329, ISSN 0002-9297, 10.1016/j.ajhg.2012.07.014.
- Reilly MM (October 2000). "Classification of the hereditary motor and sensory neuropathies". Curr. Opin. Neurol. 13 (5): 561–4. doi:10.1097/00019052-200010000-00009. PMID 11073363.