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
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Bis, Dana M; Schüle, Rebecca; Reichbauer, Jennifer et al. (2017) Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Mol Genet Genomic Med 5:280-286
Tomaselli, Pedro J; Rossor, Alexander M; Horga, Alejandro et al. (2017) Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Neurology 88:1445-1453
Shy, Michael; Rebelo, Adriana P; Feely, Shawna Me et al. (2017) Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry :
Panosyan, Francis B; Kirk, Callyn A; Marking, Devon et al. (2017) Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve :
Ramdharry, Gita M; Pollard, Alexander J; Grant, Robert et al. (2017) A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects. Disabil Rehabil 39:1753-1758
Rossor, Alexander M; Morrow, Jasper M; Polke, James M et al. (2017) Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. Neuromuscul Disord 27:50-56
Liao, Chunyan; Ashley, Neil; Diot, Alan et al. (2017) Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88:131-142
Manganelli, Fiore; Parisi, Silvia; Nolano, Maria et al. (2017) Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology 88:2132-2140

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