CMT 2A2 - from Dr. Bob Baloh at

[Guest guest]

(, OK I found Dr. Baloh, and asked him ~ GG)

Hi Gretchen,

The answer is yes, in rare cases of CMT2A2 from MFN2 mutations, optic atrophy

and brain involvement have been reported. No one knows the frequency of these

are, but they are uncommon (probably less than 10%, perhaps even less).

To be specific, brain atrophy (shrinkage of the brain) has not been observed,

but changes in the white matter have been reported on MRI scans from these

patients, particularly from the patients reported in Korea. There is a single

report of two patients that had severe brain involvement that led to death, but

since that was only seen in one family, it may have been due to other genetic

factors and not the MFN2 mutation alone.

I hope this helped.

-Bob Baloh