The principle of the method described could be applied to the diagnosis of any pathology caused by changes in gene dosage, and not just the diagnosis of HNPP and CMT1A diseases.
Inherited primary peripheral neuropathies: molecular genetics and clinical implications of CMT1A and HNPP.
Universities have appeared quite willing to grant such firms exclusive licenses (Athena Diagnostics has secured exclusive licenses from Baylor University for CMT1A
, from Duke University for Apo-E genotyping for Alzheimer disease, and from the University of Minnesota for SCA1), which in turn permit this monopolization.
The difference between one and two copies may be relatively easy to detect, but differences between two and three copies, as in the case of CMT1A
, can be more challenging and technically difficult.
The techniques used for the molecular diagnosis of CMT1A
and HNPP have several limitations.
disease, which is the most frequent type, is linked to chromosome 17p11.
In a disease such as CMT1A
that begins in childhood and is progressive, a therapy that can not only stabilize but also improve symptoms can have a profound impact on the course of the disease and patient lives.
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.
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.
Several methods have been used in clinical laboratories for the molecular diagnosis of CMT1A
and HNPP (10).