Re: CMT 2A2 - from Dr. Bob Baloh at

[Guest guest]

Uncommon is a word I really like. My mother is 95, has mild CMT and

Alzheimer's which is brain atrophy. Her brain MRI looks like lace.

With Alzheimer's and CMT 2a2 in the family, I'll likely end up a

blithering veggie, if my voice holds out. My husband says, something's

going to get you. I think I know what unless my heart gives out.

Enough negativity.

Have you seen the new CMT Neighbors face book page? I've been put on

without my knowledge but I don't really mind. It looks interesting and

I love the fact that we can add photos. Sometimes a picture of a CMT

foot, brace, hand, whatever, really gets it across.

Thanks very much Gretchen for asking Dr. Bob about 2a2.

Much appreciated.

L.

Crabtree C.M., O.Ont., O.M.C., B.A., LL.D.(hon.)

One Springbank Drive

St. Catharines, ON, Canada L2S 2K1

905-685-0496

linda@...

www.AccessibleNiagara.com

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On 13-Jan-11, at 12:42 PM, gfijig wrote:

> (, 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

>

>

>

[Guest guest]

Interesting.

I have a friend who's mother had CMT and Alzheimers and they swear that the

doctors stated that the shrinkage of the brain was due to CMT, which of course

freaked me out.

I also remember my doctor at s Hopkins making a big issue of checking my

eyes for glaucoma due to CMT.

These are things I have chosen to forget about until I read this!

Jackie

CMT 2A2 - from Dr. Bob Baloh at

 

(, 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