Hereditary Sensory and Motor Neuropathy
"Hereditary Sensory and Motor Neuropathy" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D015417
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| MeSH Number(s) |
C10.500.300 C10.574.500.495 C10.668.829.800.300 C16.131.666.300 C16.320.400.375
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| Concept/Terms |
Hereditary Sensory and Motor Neuropathy- Hereditary Sensory and Motor Neuropathy
- Neuropathies, Hereditary Motor and Sensory
- Hereditary Motor and Sensory Neuropathy
- HMSN
- Herditary Sensory and Motor Neuropathy
- Hereditary Motor and Sensory Neuropathies
HMSN Type III- HMSN Type III
- HMSN Type IIIs
- Charcot-Marie-Tooth Disease, Type 3
- Charcot Marie Tooth Disease, Type 3
- CMT4f
- Dejerine-Sottas Disease
- Dejerine Sottas Disease
- Disease, Dejerine-Sottas
- Dejerine-Sottas Neuropathy
- Dejerine Sottas Neuropathy
- Neuropathy, Dejerine-Sottas
- Hereditary, Type III, Motor and Sensory Neuropathy
- HMSN3
- Hereditary Motor and Sensory Neuropathy 3
- Hypertrophic Neuropathy of Dejerine-Sottas
- Dejerine-Sottas Hypertrophic Neuropathy
- Hypertrophic Neuropathy of Dejerine Sottas
- Hereditary Motor and Sensory Neuropathy Type III
- Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
- Dejerine-Sottas Syndrome
- Dejerine Sottas Syndrome
- Syndrome, Dejerine-Sottas
|
Below are MeSH descriptors whose meaning is more general than "Hereditary Sensory and Motor Neuropathy".
Below are MeSH descriptors whose meaning is more specific than "Hereditary Sensory and Motor Neuropathy".
This graph shows the total number of publications written about "Hereditary Sensory and Motor Neuropathy" by people in this website by year, and whether "Hereditary Sensory and Motor Neuropathy" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 1 | 1 | 2 |
| 1995 | 1 | 0 | 1 |
| 1996 | 3 | 2 | 5 |
| 1997 | 2 | 1 | 3 |
| 1998 | 1 | 0 | 1 |
| 1999 | 3 | 1 | 4 |
| 2000 | 1 | 0 | 1 |
| 2001 | 2 | 0 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2007 | 2 | 0 | 2 |
| 2010 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hereditary Sensory and Motor Neuropathy" by people in Profiles.
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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089.
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11; 86(6):892-903.
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Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord. 2008 Aug; 18(8):626-32.
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Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov; 8(4):257-62.
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Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007 Sep; 81(3):438-53.
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Molecular genetics, biology, and therapy for inherited peripheral neuropathies. Neuromolecular Med. 2006; 8(1-2):1-2.
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Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet. 2005 Nov; 77(5):841-50.
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EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul; 3(3):153-7.
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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001 Jun; 11(6):1018-33.