Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)

Also Known As:

Dejerine Sottas Disease; HMSN; CMT4f; Charcot-Marie-Tooth Disease, Demyelinating, Type 4f; Charcot-Marie-Tooth Disease, Type 3; Dejerine-Sottas Neuropathy; Dejerine-Sottas Syndrome; HMSN3; Herditary Sensory and Motor Neuropathy; Hereditary Motor and Sensory Neuropathy; Hereditary Motor and Sensory Neuropathy 3; Hereditary Motor and Sensory Neuropathy Type III; Hypertrophic Neuropathy of Dejerine-Sottas; Charcot Marie Tooth Disease, Type 3; Dejerine Sottas Neuropathy; Dejerine Sottas Syndrome; Dejerine-Sottas Hypertrophic Neuropathy; Disease, Dejerine-Sottas; HMSN Type IIIs; HMSN Type VIIs; Hypertrophic Neuropathy of Dejerine Sottas; Neuropathy, Dejerine-Sottas; Syndrome, Dejerine-Sottas; Type VII, HMSN; Dejerine-Sottas Disease; HMSN Type III; HMSN Type VII; Hereditary Motor and Sensory Neuropathies; Hereditary, Type III, Motor and Sensory Neuropathy; Hereditary, Type VII, Motor and Sensory Neuropathy; Neuropathies, Hereditary Motor and Sensory

Networked: 249 relevant articles (5 outcomes, 28 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Colonic Neoplasms (Colon Cancer)
3.	Hypertrophy
4.	Hereditary Motor And Sensory Neuropathy VI
5.	Hypoxia (Hypoxemia)

Experts

1.	Rouleau, Guy A: 6 articles (01/2016 - 09/2008)
2.	Shekarabi, Masoud: 6 articles (01/2016 - 09/2008)
3.	Sun, Shian: 5 articles (10/2021 - 01/2018)
4.	Yang, Dongzhi: 5 articles (10/2021 - 01/2018)
5.	Zhong, Yuanyuan: 5 articles (10/2021 - 01/2018)
6.	Brophy, Peter J: 5 articles (01/2019 - 04/2002)
7.	Laganière, Janet: 5 articles (01/2013 - 09/2008)
8.	Qian, Chuntong: 4 articles (09/2020 - 01/2018)
9.	Cai, Weibo: 4 articles (01/2018 - 05/2014)
10.	Dion, Patrick A: 4 articles (01/2016 - 08/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Sensory and Motor Neuropathy:

1.	Lys(8)- oxytocin (OXL)IBA 07/20/2019 - "OXmi-HMSN showed 30% of TUNEL positive cells compared to 8% TUNEL positive cells for free OXL and 6% for free miRNA-204-5p treated group indicating the wide spread apoptosis of cells throughout the tissue section. " 07/20/2019 - "Importantly, OXmi-HMSN caused conspicuous inhibition of tumor growth and was significantly greater than that of either OXL or OXL-MSN (p < 0.0001). " 07/20/2019 - "Our study, for the first time, proved that miRNA-204-5p can generate a synergistic anticancer effect with OXL with HMSN, and thus improve the effects of therapeutic efficacy in colon cancers. "
2.	Hydroxyl RadicalIBA 01/01/2018 - "Based on the abundant overexpressed hydrogen peroxide (H2O2) and mild acidic nature in tumor microenvironment (TME), rFeOx-HMSN nanocatalyst could trigger in-situ Fenton-like reactions to produce highly toxic hydroxyl radicals (·OH), causing remarkable oxidative damages against tumor cells/xenografts. " 04/17/2020 - "Specifically, benefited from the strong demand for glucose metabolism in tumor cells, this HMSN-Cu-GOD could catalyze rich glucose into H2O2 in the presence of O2, along with localized declined pH in situ to in turn degrade HMSN-Cu and thus release Cu2+/Cu+. Importantly, abound hydroxyl radical (•OH) with high oxidative activity generated in the Fenton reaction between H2O2 and Cu2+/Cu+. Interesting, the high-expressed GSH and exacerbated hypoxia in tumor cells, will facilitate accumulation of Cu+ with much higher reaction efficiency, further enhanced Chemodynamic therapy (CDT) efficiency. "
3.	Retinaldehyde (Retinal)IBA 09/01/2011 - "Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI." 09/01/2011 - "To report measures of inner retinal integrity following improvement in visual acuity and visual fields in a patient with hereditary motor and sensory neuropathy type VI (HMSN VI). " 01/01/2023 - "A single intraocular injection of CBC-MCC@hMSN(SM) complex potently suppressed diabetes-induced retinal vascular dysfunction, choroidal neovascularization, and inflammatory responses for up to 6 months. "
4.	Hyaluronic Acid (Hyaluronan)IBA 09/01/2017 - "The hyaluronic acid (HA), a natural polysaccharide, was further grafted on the surface of HMSN to realize targeted drug delivery, controlled drug release and improved the stability. " 01/01/2019 - "Herein, a molecularly organic-inorganic hybrid mesoporous silica nanoparticle (HMSN) nanocarrier coated with hyaluronic acid (HA) and polyethyleneimine (PEI) was constructed for the gene/chemo-synergetic therapy of breast cancer. "
5.	Glucose (Dextrose)FDA LinkGeneric 10/12/2017 - "The high coincidence ratio between HMSN-P and diabetes mellitus suggests TFG to have an important role(s) in glucose homeostasis. " 04/17/2020 - "Specifically, benefited from the strong demand for glucose metabolism in tumor cells, this HMSN-Cu-GOD could catalyze rich glucose into H2O2 in the presence of O2, along with localized declined pH in situ to in turn degrade HMSN-Cu and thus release Cu2+/Cu+. Importantly, abound hydroxyl radical (•OH) with high oxidative activity generated in the Fenton reaction between H2O2 and Cu2+/Cu+. Interesting, the high-expressed GSH and exacerbated hypoxia in tumor cells, will facilitate accumulation of Cu+ with much higher reaction efficiency, further enhanced Chemodynamic therapy (CDT) efficiency. "
6.	Polysaccharides (Glycans)IBA 09/01/2017 - "The hyaluronic acid (HA), a natural polysaccharide, was further grafted on the surface of HMSN to realize targeted drug delivery, controlled drug release and improved the stability. "
7.	Silicon Dioxide (Silica)FDA LinkGeneric 01/01/2023 - "In this study, MSN, DMSN, and HMSN were successfully synthesized, and to compare the drug release properties of nano-porous silica with different pore structures as a stroma for PUE drug, we provided a theoretical and practical basis for the application of PUE." 01/01/2023 - "The present study aimed to synthesize mesoporous silica nanoparticles (MSNs), dendritic mesoporous silica nanoparticles (DMSN), and hollow mesoporous silica nanoparticles (HMSN) through facile methods, and to compare the drug release properties of nano-porous silica with different pore structures as a stroma for PUE drug. " 09/01/2017 - "In this study, a co-delivery system based on hollow mesoporous silica nanoparticles (HMSN) was developed and characterized. " 10/10/2023 - "AIE molecules (P3-PPh3) were packed in hollow mesoporous silica nanoparticles (HMSNs) to form HMSN-probe and then coated with a CAFs membrane to prepare CAF-probe. " 01/01/2023 - "Our results showed that MSN, DMSN, and HMSN were successfully synthesized and the three types of mesoporous silica nanoparticles had higher drug loading and encapsulation efficiency. "
8.	Proteins (Proteins, Gene)FDA Link 11/01/2020 - "Presence of colocalised phosphorylated TDP-43 and TFG proteins in the frontotemporal lobes of HMSN-P." 01/01/2016 - "Lack of this adhesion protein from Schwann cells causes a severe dysmyelinating neuropathy with secondary axonal degeneration in humans with the neuropathy Dejerine-Sottas syndrome (DSS) and in the corresponding mouse model (P0(null)-mice). " 06/12/2012 - "HMSNs were found to yield better binding capacities and delivery profiles of proteins; the specific immune response induced by PCV2 GST-ORF2-E was maintained for a relatively long period of time after immunization with the HMSN/protein complex. " 08/12/2011 - "Here, we report a novel and more distal HMSN/ACC-truncating mutation (3402C → T; R1134X) that eliminates only the last 17 residues of the protein. " 11/01/2004 - "Mutations in the gene encoding N-myc downstream-regulated gene-1 (NDRG1) lead to truncations of the encoded protein and are associated with an autosomal recessive demyelinating neuropathy--hereditary motor and sensory neuropathy-Lom. "
9.	Myelin ProteinsIBA 03/01/1994 - "The genetic study failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the myelin protein gene, PMP-22, recently observed in HMSN type Ia, and suggested an autosomal recessive (AR) inheritance. " 10/01/2007 - "The heterozygous Trembler-J (TrJ/+) mouse, containing a point mutation in the peripheral myelin protein 22 (Pmp22) gene, is characterized by severe hypomyelination and is a representative model of Charcot-Marie-Tooth 1A (CMT1A) disease/Dejerine-Sottas syndrome (DSS). " 02/01/2005 - "The Trembler-J (TrJ) mouse, containing a point mutation in the peripheral myelin protein 22 gene, is characterized by severe hypomyelination and is a representative model of Charcot-Marie-Tooth 1A disease/Dejerine-Sottas Syndrome. " 03/01/2000 - "The Ser149Arg mutation of peripheral myelin protein 22 (PMP22) was found in a 19-year-old woman with a sporadic case of Dejerine-Sottas disease. " 03/01/2000 - "Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22."
10.	periaxinIBA 01/01/2006 - "A major role is attributed to recent progress in the pathomorphology of various types of CMT1, 2,4, CMTX, and HMNSL, based on light and electron microscopic findings, morphometry, teased fiber studies, and new immunohisto-chemical results such as staining of certain periaxin domains in CMT4F." 10/01/2020 - "Mutations in the periaxin (PRX) gene cause CMT4F with an autosomal recessive early-onset demyelinating neuropathy and are extremely rare in a non-Romani white population. " 01/01/2019 - "AHNAK2 binds directly to periaxin which is encoded by the PRX gene, and PRX mutations are associated with another form of AR-CMT (CMT4F). " 01/01/2018 - "CMT4F is a recessive demyelinating form of the disease caused by mutations in the Periaxin ( PRX) gene . " 03/01/2008 - "Here we show that in mice lacking functional Periaxin (Prx) genes, a model of a recessive type of CMT disease known as CMT4F, neuromuscular junctions (NMJs) develop profound morphological changes in the preterminal region of motor axons. "

Therapies and Procedures

1.	Therapeutics 12/20/2016 - "Here, HMSN-based co-delivery of BTZ and the tumor-suppressor gene p53 was developed for p53 signal impaired NSCLC therapy. " 04/01/2005 - "During the last year, an exciting new potential therapy for hereditary sensory and motor neuropathy has been reported, and there has been a rapid expansion in our understanding of the genetic basis of a number of dominantly and recessively inherited neuropathies of childhood, most particularly in forms with pure motor or sensory and autonomic involvement. " 09/01/2017 - "This work suggested an exploration of dual-stimuli responsive as well as real-time imaging targeted drug delivery system based on HMSN and the prepared HMSN-SS-CDPEI@HA could be a promising platform for cancer therapy." 10/01/2016 - "This work suggested an exploration about HMSN based stimuli-responsive drug delivery and these results demonstrated that HMSN-SS-CS@PEG exhibited dual-responsive drug release property and could be used as a promising carrier for cancer therapy. " 05/01/2015 - "Therefore, the HMSN-PEG nanoparticle that generated in this PEG protecting etching strategy is a promising nanocarrier toward its potential application for cancer therapy."
2.	Laminectomy 09/01/2002 - "Conus medulla-cauda compression from nerve root hypertrophy in a child with Dejerine-Sottas syndrome: improvement with laminectomy and duraplasty. "
3.	Nanospheres 01/01/2023 - "In this study, we developed a general "stepwise vacuum evaporation" strategy, which allows the nano-confined growth of MOFs in hollow mesoporous silica nanospheres (HMSN) by the vacuum forces and the capillary effect. " 02/01/2017 - "DOX was adsorbed into the nanoscale hollow structure of the hollow mesoporous silica nanospheres (HMSN) by adsorption and PTX was wrapped in the phospholipid layer of the HMSN surface by lipid film hydration method. " 08/21/2015 - "In this work, a novel type of hollow mesoporous silica nanoparticle (HMSN) with a rough surface has been successfully prepared via a facile soft-hard template route by using a carbon nanosphere as a hard template and cetyltrimethylammonium bromide (CTAB) as a soft template, respectively. " 02/01/2017 - "A carrier consisting of lipid-coated hollow mesoporous silica nanospheres (L-HMSN) was produced for the combination of the water-insoluble drug (paclitaxel, PTX) and the water-soluble drug (doxorubicin, DOX). " 10/01/2023 - "Herein, a molecular switch-integrated, photo-responsive nanoplatform is reported based on hollow mesoporous silica nanospheres (HMSN) loaded with silver nanoparticles (Ag NPs), vancomycin (Van), and hemin (HAVH) for bacteria elimination and abscess therapy. "
4.	Denervation 06/01/2013 - "A patient with HMSN-P underwent EDX studies, revealing ongoing and chronic neurogenic denervation, motor unit instability, and neuromyotonic discharges, further defining the spectrum of EDX findings in HMSN-P. " 09/01/1998 - "Correlation between denervation activity and compound muscle action potential amplitude in hereditary motor and sensory neuropathy I and II." 06/01/1997 - "Electrophysiologically, the tibialis anterior muscle showed more denervation in patients with HMSN type 2, consistent with the predominance of motor symptoms. " 07/01/1993 - "In addition, we have also a few cases of complicated HMSN forms (rare variants), associated with: 1. Isaacs' syndrome; 2. "denervation-reinnervation" muscle hypertrophy; and 3. Marinesco-Sjögren syndrome. "
5.	Resistance Training 04/18/2007 - "In a trial with altogether 26 participants with Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy), long-term strength training significantly increased walking speed on a 6 metre timed walk (MD -0.70 seconds, 95% CI -1.17 to -0.23) but not on a 50 metre timed walk (MD -1.9 seconds, 95% CI -4.09 to 0.29). " 07/01/1995 - "Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial." 07/01/1995 - "A randomized clinical trial on the effects of strength training was performed in myotonic dystrophy (MyD) patients and patients with hereditary motor and sensory neuropathy (HMSN). "