PMID: 11898503Mar 20, 2002Paper

A molecular basis for hereditary motor and sensory neuropathy disorders

Current Neurology and Neuroscience Reports
M E ShyJ Kamholz

Abstract

Charcot-Marie-Tooth disease (CMT), or inherited peripheral neuropathies, is one of the most frequent genetically inherited neurologic disorders, with a prevalence of approximately one in 2500 people. CMT is usually inherited in an autosomal dominant fashion, although X-linked and recessive forms of CMT also exist. Over the past several years, considerable progress has been made toward understanding the genetic causes of many of the most frequent forms of CMT, particularly those caused by mutations in Schwann cell genes inducing the demyelinating forms of CMT, also known as CMT1. Because the genetic cause of these disorders is known, it is now possible to study how mutations in genes encoding myelin proteins cause neuropathy. Identifying these mechanisms will be important both for understanding demyelination and for developing future treatments for CMT.

References

Feb 1, 1992·Seminars in Cell Biology·N M Kumar, N B Gilula
Feb 1, 1992·Journal of the Neurological Sciences·A A Gabreëls-FestenT W Janssen-van Kempen
Apr 26, 1990·Nature·M T FilbinG I Tennekoon
Dec 1, 1990·Journal of Neurochemistry·M SuzukiK Uyemura
Mar 1, 1991·Neuron·M V BennettJ C Sáez
Oct 1, 1990·Brain : a Journal of Neurology·A F HahnT E Feasby
May 1, 1989·Experimental Neurology·J M VanceM A Pericak-Vance
Jan 1, 1974·Journal of Neurology, Neurosurgery, and Psychiatry·P K Thomas, D B Calne
Oct 1, 1980·Journal of Medical Genetics·A E Harding, P K Thomas
Jun 1, 1980·Brain : a Journal of Neurology·A E Harding, P K Thomas
Apr 1, 1994·Journal of Neuroscience Research·A GowR A Lazzarini
Apr 1, 1994·Trends in Genetics : TIG·P I Patel, J R Lupski
Apr 1, 1995·Neuropathology and Applied Neurobiology·B HardingS Malcolm
Sep 1, 1993·Human Molecular Genetics·K HayasakaV V Ionasescu
Apr 1, 1994·Journal of Neuroscience Research·C O HanemannH W Müller
Dec 24, 1993·Science·J BergoffenK H Fischbeck
Nov 1, 1993·Muscle & Nerve·V V IonasescuC Searby

❮ Previous
Next ❯

Citations

Aug 27, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Sunitha RangarajuLucia Notterpek
Jan 15, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Yunhong BaiJun Li
Feb 1, 2014·Brain : a Journal of Neurology·Axel NiemannUeli Suter
May 16, 2007·The Journal of Cell Biology·Ana-Maria GaboreanuJanne Balsamo
Jul 29, 2008·Neurobiology of Disease·Sunitha RangarajuLucia Notterpek
Nov 2, 2019·Brain Sciences·Federica ScaliaFrancesco Cappello
Dec 26, 2001·Molecular and Cellular Neurosciences·D M MenichellaM E Shy

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.