Abstract

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:

  Funding Agency

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

  Institution

Name
University of Iowa
Department
Type
DUNS #
062761671
City
Iowa City
State
IA
Country
United States
Zip Code
52242

  Publications

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
Shy, Michael E (2018) Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A. J Clin Invest 128:110-112
Jerath, Nivedita U; Mankodi, Ami; Crawford, Thomas O et al. (2018) Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle Nerve 57:749-755
Tomaselli, Pedro J; Horga, Alejandro; Rossor, Alexander M et al. (2018) IGHMBP2 mutation associated with organ-specific autonomic dysfunction. Neuromuscul Disord 28:1012-1015
Johnson, Nicholas E; Heatwole, Chad; Creigh, Peter et al. (2018) The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome. Ann Neurol 84:225-233
Davies, Jenny L; Engelstad Sr.,, Janean K; E Gove, Linde et al. (2018) Somatotopic heat pain thresholds and intraepidermal nerve fibers in health. Muscle Nerve 58:509-516
Saghira, Cima; Bis, Dana M; Stanek, David et al. (2018) Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. Hum Mutat 39:635-642
Shy, Michael; Rebelo, Adriana P; Feely, Shawna Me et al. (2018) Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 89:313-315
Laurá, Matilde; Singh, Dishan; Ramdharry, Gita et al. (2018) Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve 57:255-259
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

Showing the most recent 10 out of 189 publications