Hereditary motor and sensory neuropathy

Hereditary motor and sensory neuropathy
Classification and external resources
eMedicine	neuro/468
MeSH	D015417

Hereditary motor and sensory neuropathies (HMSN) are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication.

They are more common than hereditary sensory and autonomic neuropathies.

Types

In 1968, it was classified from groups I to VII:

Type	Other names	Diseases Database	OMIM
HMSN1	Charcot–Marie–Tooth disease type 1	5815	(multiple)
HMSN2	Charcot–Marie–Tooth disease type 2	2343	(multiple)
HMSN3	Dejerine–Sottas disease Charcot–Marie–Tooth disease type 3	5821	145900
HMSN4	Refsum disease	11213	266500
HMSN5	Charcot–Marie–Tooth disease with pyramidal features HMSN with pyramidal features	—	600361
HMSN6	Charcot–Marie–Tooth disease type 6 HMSN with optic atrophy	32095	601152
HMSN7	HMSN+retinitis pigmentosa	32094	—

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).

HMSN is sometimes equated with Charcot-Marie-Tooth disease.

See also

• Charcot–Marie–Tooth disease
• Hereditary motor neuropathies
• Hereditary sensory and autonomic neuropathies
• Spinal muscular atrophies

References

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.

Further reading

• 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.