Natural History

$217,789U54FY2010NSNIH

Wayne State University, Detroit MI

Investigators

Linked publications & trials

Paper 39394845 Paper 39390667 Paper 39092477 Paper 39083076 Paper 38796985 Paper 38581130 Paper 38527963 Paper 38481354 Paper 38472136 Paper 38409938 Paper 37772343 Paper 37497262 Paper 37380432 Paper 37337674 Paper 37284795 Paper 37170631 Paper 37166413 Paper 37014713 Paper 36997315 Paper 36947133 Paper 36891823 Paper 36748295 Paper 36376020 Paper 36242072 Paper 36203352 Paper 36177974 Paper 35837802 Paper 35140138 Paper 35132656 Paper 34851050 Paper 34796871 Paper 34637194 Paper 34518334 Paper 34516839 Paper 34325999 Paper 34090020 Paper 34031204 Paper 33960567 Paper 33938912 Paper 33889941 Paper 33844363 Paper 33650166 Paper 33563805 Paper 33415332 Paper 33222249 Paper 33144514 Paper 33103729 Paper 33074106 Paper 33059769 Paper 32943585 Paper 32851396 Paper 32844461 Paper 32769113 Paper 32741968 Paper 32696510 Paper 32511835 Paper 32441898 Paper 32367058 Paper 32333430 Paper 32326241 Paper 32293014 Paper 32047073 Paper 32040566 Paper 31899213 Paper 31833243 Paper 31753915 Paper 31701603 Paper 31636353 Paper 31628756 Paper 31582811 Paper 31525351 Paper 31468327 Paper 31343428 Paper 31135052 Paper 31070812 Paper 31026080 Paper 30995999 Paper 30958311 Paper 30945774 Paper 30926972 Paper 30829617 Paper 30737464 Paper 30706531 Paper 30642740 Paper 30476010 Paper 30385095 Paper 30232254 Paper 30178502 Paper 30072201 Paper 30014533 Paper 29687021 Paper 29543981 Paper 29518270 Paper 29499166 Paper 29473246 Paper 29351582 Paper 29341354 Paper 29321234 Paper 29235198 Paper 29199996

Abstract

ABSTRACT Charcot Marie Tooth disease (CMT) is the eponym for heritable peripheral neuropathy. It is one of the most common inherited neuromuscular diseases, affecting approximately 1 in 2500 people. CMT can be classified into three large subgroups: CMT1 (dominantly inherited demyelinating neuropathies) CMT2 (the dominantly inherited axonal neuropathies), and CMT4 (the recessively inherited neuropathies). Genetically authentic animal models exist for many forms of CMT1, 2, and 4, and have provided the data compelling the clinical trials in humans currently underway for CMT1A. Despite these advances, there are no effective therapies for any form of CMT, natural history data are available for only the most common types (CMT1A and CMT1X), and many potential genotype-phenotype correlations remain unknown. The lack of knowledge about their natural history limits the clinical trials for most forms of CMT. To address this problem, we will use the resources in the Inherited Neuropathy Consortium to perform natural history evaluations of three most common forms of CMT that lack natural history data;CMT1B, CMT2A, and CMT4A.

View original record on NIH RePORTER →