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:

Networked: 149 relevant articles (1 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
2.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
3.	Spinal Muscular Atrophy (Progressive Muscular Atrophy)
4.	Neoplasms (Cancer)
5.	Cataract (Cataracts)

Experts

1.	Thomas, P K: 6 articles (08/2003 - 05/2000)
2.	Shekarabi, Masoud: 5 articles (01/2013 - 09/2008)
3.	Laganière, Janet: 5 articles (01/2013 - 09/2008)
4.	Rouleau, Guy A: 5 articles (01/2013 - 09/2008)
5.	Salin-Cantegrel, Adèle: 4 articles (01/2013 - 09/2008)
6.	Kalaydjieva, L: 4 articles (12/2000 - 07/2000)
7.	King, R H: 4 articles (12/2000 - 05/2000)
8.	Angelicheva, D: 4 articles (12/2000 - 07/2000)
9.	Dion, Patrick A: 3 articles (01/2013 - 08/2011)
10.	Rasheed, Sarah: 3 articles (01/2013 - 08/2011)

Drugs and Biologics

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

1.	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). "
2.	LOM type hereditary motor and sensory NeuropathyIBA 12/01/2000 - "Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies." 01/01/2001 - "To determine A-waves of a family with autosomal recessive form of demyelinatig hereditary motor and sensory neuropathy Lom (HMSNL). " 12/01/2000 - "The clinical, electrophysiological, pathological and genetic findings are described in the first Spanish family diagnosed with hereditary motor and sensory neuropathy type Lom (HMSNL) initially identified by Kalaydjeva et al. in 1996. " 12/01/2000 - "Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries." 07/01/2000 - "Here we report the identification of the gene responsible for hereditary motor and sensory neuropathy-Lom (HMSNL). "
3.	Myelin P0 Protein (Myelin Protein Zero)IBA 05/01/2007 - "In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. " 08/01/1999 - "Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy." 05/01/1998 - "Mutations of the myelin protein zero (MPZ) gene have been associated with CMT1B, Dejerine-Sottas disease, and congenital hypomyelination, which are inherited demyelinating neuropathies characterized by different clinical severity. " 04/01/1998 - "A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype." 03/01/1996 - "Other mutations of the myelin protein PMP22 and myelin protein P0 genes have been associated with the clinical syndrome known as Dejerine-Sottas disease. "
4.	DNA (Deoxyribonucleic Acid)IBA 01/01/1994 - "The presence of DNA duplication was detected in all the sporadic cases and was absent in all parents and relatives, thus confirming that a de novo dominant mutation is commonly present also in patients without a familial history and that there is a practical relevance of the genetic study in distinguishing isolated cases of CMT 1 from other forms of hereditary motor and sensory neuropathies or demyelinating neuropathies." 10/01/2008 - "This finding will provide development of most optimal algorithm of the HMSN DNA diagnostics in the region." 09/01/2000 - "In the conclusions the advantages and limits of mentioned methods of DNA analysis in HMSN have been described." 06/19/1995 - "The most frequent form, HMSN type Ia, is associated with a specific duplication on chromosome 17, which can be detected by DNA-analysis. " 02/01/1994 - "Our data provide further evidence that: HMSN III is heterogeneous and encompasses the homozygous expressions of different neuropathic genes; it is advisable to separate autosomal recessive hypertrophic HMSN from dominant HMSN Ia, because they appear to be due to different DNA mutations."
5.	Silicon Dioxide (Sand)FDA LinkGeneric 05/01/2015 - "HMSN-PEG nanoparticles were transformed from conventional PEG-modified mesoporous silica nanoparticles (MSN-PEG). " 05/01/2015 - "PEGylated hollow mesoporous silica nanoparticles (HMSN-PEG) were successfully fabricated by only one simple step through hydrothermal treatment in Na2CO3 solution. " 01/21/2014 - "The versatility of silica-etching chemistry, a simple but scalable synthetic methodology, offers great potential for the creation of new types of HMSN-based nanostructures in a range of applications. " 01/01/2015 - "The purpose of this study was to construct hollow mesoporous silica nanoparticles (HMSN) decorated with tLyp-1 peptide (tHMSN) for dual-targeting drug delivery to tumor cells and angiogenic blood vessel cells. " 01/01/2014 - "Hollow mesoporous silica nanoparticle (HMSN) has recently gained increasing interests due to their tremendous potential as an attractive nano-platform for cancer imaging and therapy. "
6.	Myelin ProteinsIBA 04/01/1999 - "The existence of recessive transmission of Dejerine-Sottas disease, a severe demyelinating neuropathy of childhood, has been questioned, because only heterozygous mutations of the myelin proteins P0 or PMP22 genes have been identified in virtually all patients with this phenotype. " 06/01/1995 - "This was partly clarified by the advent of nerve conduction studies and the definition of the most common, but heterogeneous, disorders underlying this syndrome, hereditary motor and sensory neuropathies (HMSN) types I and II. The classification of HMSN is now changing as a result of the identification of underlying mutations in genes encoding myelin proteins. " 11/01/1995 - "The classification of hereditary motor and sensory neuropathies has been changed by the identification of underlying mutations encoding myelin proteins, P0 and peripheral myelin protein 22 and connexin 32. "
7.	BrachyolmiaIBA 07/01/2010 - "Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in the TRPV4 gene can results in genetic disorders like Brachyolmia, Charcot-Marie-Tooth disease type 2C, Spinal Muscular Atrophy and Hereditary Motor and Sensory Neuropathy type 2. Close analysis of the data obtained from these naturally occurring as well as other TRPV4 mutants suggest that it is not the altered channel activity of these mutants per se, but the involvement and interaction of other factors that seem to modulate oligomerization, trafficking and degradation of TRPV4 channels. " 01/01/2011 - "This chapter aims to summarise those associations and focuses on the following diseases: focal segmental glomerulosclerosis; polycystic kidney disease; brachyolmia; spondylometaphyseal dysplasia; metatropic dysplasia; hereditary motor and sensory neuropathy; spinal muscular atrophy; congenital stationary night blindness; progressive familial heart block; hypomagnesaemia; and mucolipidosis. " 11/01/2011 - "Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). "
8.	Russe type hereditary motor and sensory NeuropathyIBA 12/01/2009 - "Hereditary Motor and Sensory Neuropathy -- Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. " 09/01/2000 - "The novel disorder, named "hereditary motor and sensory neuropathy-Russe" (HMSNR), presented as a severe disabling form of Charcot-Marie-Tooth disease with prominent sensory loss, moderately reduced motor nerve conduction velocity, and a high threshold for electrical nerve stimulation. " 12/01/2009 - "A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR)." 11/30/2008 - "Because of our experience in neuromuscular disorders, we choose six, frequent, autosomal recessive disorders for these clinical and genetic studies: hereditary motor and sensory neuropathy type Lom (HMSNL), hereditary motor and sensory neuropathy type Russe (HMSNR), congenital cataracts facial dysmorphism syndrome (CCFDN), limb-girdle muscular dystrophy 2C (LGMD2C), congenital myasthenic syndrome (CMS) and spinal muscular atrophy (SMA). "
9.	Type 2C Charcot-Marie-Tooth diseaseIBA 02/01/2010 - "Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. " 07/01/2010 - "Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in the TRPV4 gene can results in genetic disorders like Brachyolmia, Charcot-Marie-Tooth disease type 2C, Spinal Muscular Atrophy and Hereditary Motor and Sensory Neuropathy type 2. Close analysis of the data obtained from these naturally occurring as well as other TRPV4 mutants suggest that it is not the altered channel activity of these mutants per se, but the involvement and interaction of other factors that seem to modulate oligomerization, trafficking and degradation of TRPV4 channels. "
10.	Lipid AIBA 04/01/1970 - "Histologic and lipid studies of sural nerves in inherited hypertrophic neuropathy: preliminary report of a lipid abnormality in nerve and liver in Dejerine-Sottas disease."

Therapies and Procedures

1.	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. "
2.	Resistance Training 01/01/2007 - "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). "
3.	X-Ray Film 10/15/2007 - "Plain-film radiographic spine studies of 175 HMSN patients were performed to determine the incidence, character, and severity of spinal deformity. "
4.	Individualized Medicine 06/01/2014 - "Characterization of the core pathology is a prerequisite to the development of personalized medicine for genetically heterogeneous diseases, such as hereditary motor and sensory neuropathy (HMSN). "
5.	Cochlear Implantation 06/01/2006 - "Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies)."