Charcot-Marie-Tooth disease (CMT) is the eponym for all inherited neuropathies that are not part of a syndrome. CMT is a relatively common disease, affecting ~1:2500 people (Skre, 1974), but the genetic causes of CMT are increasingly diverse, with more than 30 genes identified to date. CMT1, CMT2, and CMT4 collectively constitute the majority of CMT cases, and are the focus of this grant. Mutations that primarily affect myelinating Schwann cells cause demyelinating forms of CMT;mutations that primarily affect neurons cause the """"""""axonal"""""""" forms of CMT. The pace of progress is truly amazing, but this has created a void between what is known and what most health care professionals know about CMT. To address this problem, I will develop and maintain a website that incorporates the following features:

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
7U54NS065712-04
Application #
8478286
Study Section
Special Emphasis Panel (ZRG1-HOP-Y)
Project Start
Project End
Budget Start
2012-01-02
Budget End
2012-08-31
Support Year
4
Fiscal Year
2011
Total Cost
$33,282
Indirect Cost
Name
University of Iowa
Department
Type
DUNS #
062761671
City
Iowa City
State
IA
Country
United States
Zip Code
52242
Hu, Bo; McCollum, Megan; Ravi, Vignesh et al. (2018) Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Ann Neurol 83:756-770
Dankwa, Lois; Richardson, Jessica; Motley, William W et al. (2018) A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J Peripher Nerv Syst 23:36-39
Bai, Yunhong; Wu, Xingyao; Brennan, Kathryn M et al. (2018) Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. Ann Clin Transl Neurol 5:445-455
Rebelo, Adriana P; Saade, Dimah; Pereira, Claudia V et al. (2018) SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain 141:662-672
Abbott, Jamie A; Meyer-Schuman, Rebecca; Lupo, Vincenzo et al. (2018) Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat 39:415-432
Abrams, Alexander J; Fontanesi, Flavia; Tan, Natalie B L et al. (2018) Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Hum Mutat 39:1995-2007
Sandelius, ├ůsa; Zetterberg, Henrik; Blennow, Kaj et al. (2018) Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology 90:e518-e524
Lassuthova, Petra; Rebelo, Adriana P; Ravenscroft, Gianina et al. (2018) Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet 102:505-514
Panosyan, Francis B; Kirk, Callyn A; Marking, Devon et al. (2018) Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve 57:388-394
Synofzik, Matthis; Helbig, Katherine L; Harmuth, Florian et al. (2018) De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet 26:1623-1634

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