Hereditary motor and sensory neuropathy with proximal dominance
Hereditary motor and sensory neuropathy with proximal dominance (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 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" [1]
See also
References
- ^ Ishiura, H.; Sako, W.; Yoshida, M.; Kawarai, T.; Tanabe, O.; Goto, J.; Takahashi, Y.; Date, H.; Mitsui, J.; Ahsan, B.; Ichikawa, Y.; Iwata, A.; Yoshino, H.; Izumi, Y.; Fujita, K.; Maeda, K.; Goto, S.; Koizumi, H.; Morigaki, R.; Ikemura, M.; Yamauchi, N.; Murayama, S.; Nicholson, G. A.; Ito, H.; Sobue, G.; Nakagawa, M.; Kaji, R.; Tsuji, S. (2012). "The TRK-Fused Gene is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement". The American Journal of Human Genetics. 91 (2): 320. doi:10.1016/j.ajhg.2012.07.014.
Further reading
- Patroclo, C. B.; Lino, A. M. M.; Marchiori, P. E. P.; Brotto, M. R. W. I.; Hirata, M. T. A. (2009). "Autosomal dominant HMSN with proximal involvement: New Brazilian cases". Arquivos de Neuro-Psiquiatria. 67 (3b): 892–896. doi:10.1590/S0004-282X2009000500021. PMID 19838524.
- Lee, S. S.; Lee, H. J.; Park, J. M.; Hong, Y. B.; Park, K. D.; Yoo, J. H.; Koo, H; Jung, S. C.; Park, H. S.; Lee, J. H.; Lee, M. G.; Hyun, Y. S.; Nakhro, K; Chung, K. W.; Choi, B. O. (2013). "Proximal Dominant Hereditary Motor and Sensory Neuropathy with Proximal Dominance Association with Mutation in the TRK-Fused Gene". JAMA Neurology. 70 (5): 1–0. doi:10.1001/jamaneurol.2013.1250. PMID 23553329.
- Campellone, J. V. (2013). "Hereditary Motor and Sensory Neuropathy with Proximal Predominance (HMSN-P)". Journal of Clinical Neuromuscular Disease. 14 (4): 180–183. doi:10.1097/CND.0b013e318286165a. PMID 23703013.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |