Distal hereditary motor neuropathies

Definition:

Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT) [DS:H00264] and with juvenile forms of amyotrophic lateral sclerosis [DS:H00058] and hereditary spastic paraplegia [DS:H00266]. The causative genes with autosomal dominant, recessive, and X-linked patterns of inheritance have implicated proteins with diverse functions. Distal HMN are classified into phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features.

References:

[1]. Alessandra Capuano, et al. Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. Hum Mutat. 2016 Jan;37(1):84-97. [Content Brief]

[2]. Alexander M Rossor, et al. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. [Content Brief]

[3]. Anthony Antonellis, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. [Content Brief]

[4]. Charlotte J Sumner, et al. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013 Nov 7;93(5):976-83. [Content Brief]

[5]. Christian Beetz, et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45. [Content Brief]

[6]. Christian Windpassinger, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. [Content Brief]

[7]. Gudrun Schottmann, et al. Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. Neurol Genet. 2015 Oct 22;1(4):e32. [Content Brief]

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[10]. Joy Irobi, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet. 2004 Jun;36(6):597-601. [Content Brief]

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[14]. Marina L Kennerson, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010 Mar 12;86(3):343-52. [Content Brief]

[15]. Michaela Auer-Grumbach, et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet. 2010 Feb;42(2):160-4. [Content Brief]

[16]. Oleg V Evgrafov, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 2004 Jun;36(6):602-6. [Content Brief]

[17]. Pei-Chien Tsai, et al. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain. 2017 May 1;140(5):1252-1266. [Content Brief]

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[19]. Sergiu C Blumen, et al. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol. 2012 Apr;71(4):509-19. [Content Brief]

[20]. Xiaobo Li, et al. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology. 2015 Jun 16;84(24):2430-7. [Content Brief]

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