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CMT1ACharcot-Marie-Tooth Disease Type 1A
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sup][6],[31] Our CMT patients were markedly slower to completed the 9-HPT compared with mild CMT1A patients (dominant hand: 15 [+ or -] 5.
Gene therapy for constant neurotrophin-3(NT-3) delivery by secretion by muscle cells for the CMT1A is also one of the possible treatments under trial.
Patients diagnosed with CMT1A according to clinical examination and confirmation by genotyping were randomly assigned in a 1:1:1 ratio to receive 1 g ascorbic acid per day, 3 g ascorbic acid per day, or placebo.
TABLE 1 Clinical and genetic classification of hereditary motor and sensory neuropathy, with the linked locus and gene if known (Pestronk 2004) Pattern of Inhe- CMT-Type ritance Phenotype Locus Gene (s) Demyeli- Dominant CMT1A 17p11 PMP22 nating CMT1B; CMT1E 1q22 MPZ CMT1C 16p13 LITAF CMT1D 10q21 ERG2 CMT1F 8p21 NEFL HNPP l7p11 PMP22-deletion HMSN3 (Dejerine- PMP22/MPZ/ Sottas) EGR2/8q23 Thermosensitive ?
The forthcoming Phase II randomized, comparative, placebo-controlled clinical trial will evaluate the safety, efficacy, pharmacodynamics and pharmacokinetics of PXT3003 in patients suffering from CMT1A.
The question is: Will laboratories develop CMT1A testing based on these STR PCR methods?
Moreover, infrequent variation in the CMT1A-REP sequences (23-25), chimerism of the duplication junction fragments (26), and possible recombination outside the CMT1A-REP sequences (27, 28) make the methods based on identification of the CMT1A junction fragments prone to misinterpretation.
Of those, CMT1A is the most common form of the disease, accounting for 70-90% of CMT1 patients (2).
This situation has occurred: the exclusive provider of CMT1A testing effectively monopolized the market for CMTX testing even before the patent on CMTX was issued.
Because the expression of the disorders can be quite variable and CMT1A shows genetic heterogeneity, the DNA testing for these diseases establishes a secure diagnosis; it also permits genetic counseling and testing for high-risk family members.
Molecular diagnosis of CMT1A or HNPP involves the detection of the respective DNA duplication or deletion.