Brazilian CMT 1A research

[Guest guest]

Dear ers,

This afternoon Dr. Marques, Jr., from the Neurology Department of the

University of Sao Paolo, Brazil, sent me a copy of his team's full research

report on CMT 1A findings.

I have read and uploaded the groundbreaking Brazilian CMT 1A Research paper, of

which I posted the abstract earlier today. It can be found in our Files section.

This is an important work, as it was not restricted to North America, Europe,

or Australia, where most of the research has come from.

The paper details CMT 1A Dup and mutations from 57 Brazilian patients from 42

unrelated families. It also describes the male lineage as European, with the

female lineage Amerindian or African. Easy to understand graphs and charts are

included as is an extensive bibliography.

6 patients showed postural tremor, indicative of Roussy Levy syndrome. What

struck me as so different was the findings of floppy baby syndrome and learning

impediments. I think someone asked last week about CMT and learning

disabilities. This is the first academic report I have seen that mentions

learning disabilities with CMT.

More shall be revealed! I am very grateful to Dr. Marques for sharing his

research with me and allowing me to share it with all of you.

~ Gretchen