Type V Distal Hereditary Motor Neuronopathy

PROM

Also Known As:

Neuronopathy, Distal Hereditary Motor, Type V; DHMN V; DHMN5; DSMAV; Dhmn-V; Distal Hereditary Motor Neuronopathy, Type V; Distal Hereditary Motor Neuropathy, Type V; Distal Spinal Muscular Atrophy, Type V; HMN V; HMN5; Neuropathy, Distal Hereditary Motor, Type V; Spinal Muscular Atrophy, Distal Type V; Spinal Muscular Atrophy, Distal, Type V; Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

Networked: 19 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 14178

Related Diseases

1.	Type V Distal Hereditary Motor Neuronopathy
2.	Type 2D Charcot-Marie-Tooth disease
3.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
4.	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy)
5.	Spastic paraplegia 17

Experts

1.	Tan, Choo Hock: 4 articles (12/2021 - 01/2018)
2.	Tan, Kae Yi: 4 articles (12/2021 - 01/2018)
3.	Lingam, Thava Malar Changra: 3 articles (12/2021 - 10/2019)
4.	Christodoulou, Kyproula: 2 articles (05/2009 - 05/2003)
5.	Buxton, Christopher: 1 article (01/2020)
6.	Dick, David: 1 article (01/2020)
7.	Forrester, Natalie: 1 article (01/2020)
8.	Fuller, Geraint: 1 article (01/2020)
9.	Greenslade, Mark: 1 article (01/2020)
10.	Gutowski, Nicholas: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type V Distal Hereditary Motor Neuronopathy:

1.	Antivenins (Antivenoms)IBA 01/01/2022 - "siamensis (Thai-DsMAV) monovalent antivenom, Deinagkistrodon acutus monovalent antivenom (DaAV), and Gloydius brevicaudus monovalent antivenom (GbAV). " 01/01/2022 - "siamensis monovalent antivenom (C-DsMAV) and three commercially available antivenoms (Thai D. " 01/01/2020 - "siamensis Monovalent Antivenom (DsMAV-Thailand) is produced in Thailand but not available in Indonesia, where a heterologous trivalent antivenom, Serum Anti Bisa Ular (SABU), is used instead. " 10/01/2019 - "DSMAV appears to be the appropriate choice of antivenom to treat Russell's viper envenoming." 01/01/2018 - "Daboia siamensis Monovalent Antivenom produced in Taiwan (DsMAV-Taiwan) was immunoreactive toward the Guangxi D. "
2.	VenomsIBA 01/01/2020 - "The venoms, nevertheless, shared conserved antigenicity that allowed effective immunorecognition by DsMAV-Thailand but not by SABU, consistent with the neutralization efficacy of the antivenoms. " 12/01/2021 - "Regional antivenoms (DsMAV-Thailand, DsMAV-Taiwan, VPAV-India) preincubated with the venoms effectively neutralized the CLS effect to different extents. " 01/01/2020 - "DsMAV-Thailand exhibited strong immunorecognition of the major protein fractions in both venoms, but low immunoreactivity toward the low molecular weight proteins e.g. " 10/01/2019 - "Daboia siamensis monovalent antivenom (DSMAV, Thailand) exhibited comparable immunoreactivity toward the venoms of eastern Russell's vipers from Thailand and Indonesia. " 01/01/2020 - "The efficacies of DsMAV-Thailand and SABU in binding the various venom fractions were assessed using an enzyme-linked immunosorbent assay optimized for immunorecognition profiling. "
3.	Glycine-tRNA LigaseIBA 11/01/2014 - "Distal spinal muscular atrophy type V (dSMA-V), a hereditary axonal neuropathy, is a glycyl-tRNA synthetase (GRS)-associated neuropathy caused by a mutation in GRS. " 06/13/2006 - "Glycyl-tRNA synthetase mutations are a frequent cause of familial distal hereditary motor neuropathy type V but, because of the reduced penetrance of the disease, could also account for isolated cases." 06/13/2006 - "The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V." 01/01/2020 - "Pathogenic variants in the Glycyl-tRNA synthetase gene cause the allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy type V. We describe clinical features in 8 unrelated patients found to have Glycyl-tRNA synthetase variants by Next Generation Sequencing. " 01/01/2014 - "Comprehensive analysis of known CMT-related genes revealed a novel heterozygous c.815T>A, p.L218Q mutation in glycyl-tRNA synthetase (GARS), a causative gene for both CMT type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V). "
4.	EnzymesIBA 07/01/2009 - "Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutation that leads to a non-conservative substitution within GARS. " 01/01/2020 - "The efficacies of DsMAV-Thailand and SABU in binding the various venom fractions were assessed using an enzyme-linked immunosorbent assay optimized for immunorecognition profiling. " 12/01/2012 - "Glycyl-tRNA synthetase (GARS), which encodes the enzyme responsible for charging tRNA(Gly) with glycine in both the cytoplasm and mitochondria, is implicated to Charcot-Marie-Tooth disease 2D (CMT2D) and distal hereditary motor neuropathy type V (dHMN-V). "
5.	Proteins (Proteins, Gene)FDA Link 04/17/2006 - "Seipin is associated with the heterogeneous genetic disease BSCL2, and mutations in an N-glycosylation motif links the protein to two other disorders, autosomal-dominant distal hereditary motor neuropathy type V and Silver syndrome. " 01/01/2020 - "DsMAV-Thailand exhibited strong immunorecognition of the major protein fractions in both venoms, but low immunoreactivity toward the low molecular weight proteins e.g. "
6.	SilverIBA 03/01/2007 - "Heterozygous mutations in the Seipin/BSCL2 gene have recently been identified in two autosomal dominant motor neuron diseases, distal hereditary motor neuropathy type V and Silver's syndrome. "
7.	Gly Transfer RNAIBA 12/01/2012 - "Glycyl-tRNA synthetase (GARS), which encodes the enzyme responsible for charging tRNA(Gly) with glycine in both the cytoplasm and mitochondria, is implicated to Charcot-Marie-Tooth disease 2D (CMT2D) and distal hereditary motor neuropathy type V (dHMN-V). "
8.	Messenger RNA (mRNA)IBA 01/30/2014 - "Previous research has suggested that REEP1 mRNA is ubiquitously expressed in brain, muscle, endocrine, and multiple other organs, inconsistent with the neurodegenerative phenotype observed in HSP and dHMN-V. To more fully examine REEP1 expression, we developed and characterized a new REEP1 monoclonal antibody for both immunoblotting and immunofluorescent microscopic analysis. "
9.	ImmunosorbentsIBA 01/01/2020 - "The efficacies of DsMAV-Thailand and SABU in binding the various venom fractions were assessed using an enzyme-linked immunosorbent assay optimized for immunorecognition profiling. "
10.	Heat-Shock Proteins (Heat-Shock Protein)IBA 12/15/2007 - "Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS. "