Early Onset CMT with mitofusion 2 mutations and brain involvement

[Guest guest]

J Neurol Neurosurg Psychiatry. 2010 Jun 28

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain

involvement.

Chung KW, Suh BC, Cho SY, Choi SK, Kang SH, Yoo JH, Hwang JY, Choi BO.

Department of Biological Science, Kongju National University, Gongju, Korea.

Abstract

Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most

common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A

prospective brain MRI study was performed on 18 early-onset CMT patients with

MFN2 mutations, and a high frequency (39%) of brain abnormalities was found.

Early-onset patients showed multiple scattered or confluent brain lesions that

involved gray matter as well as white matter. Patterns of brain involvement in

early-onset patients differed from those of late-onset patients and other

hereditary peripheral neuropathies.

In addition, one CMT patient demonstrated a brain lesion before the development

of peripheral neuropathy.

[Guest guest]

What age would be considered early onset? I had an MRI and I was told I had the

healthiest brain the neurologist had ever seen. I had CMT in the first decade.

In a message dated 7/1/2010 10:35:08 A.M. Pacific Daylight Time,

-owner writes:

J Neurol Neurosurg Psychiatry. 2010 Jun 28

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and

brain involvement.

Chung KW, Suh BC, Cho SY, Choi SK, Kang SH, Yoo JH, Hwang JY, Choi BO.

Department of Biological Science, Kongju National University, Gongju,

Korea.

Abstract

Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most

common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A

prospective brain MRI study was performed on 18 early-onset CMT patients with

MFN2 mutations, and a high frequency (39%) of brain abnormalities was

found.

Early-onset patients showed multiple scattered or confluent brain lesions

that involved gray matter as well as white matter. Patterns of brain

involvement in early-onset patients differed from those of late-onset patients

and other hereditary peripheral neuropathies.

In addition, one CMT patient demonstrated a brain lesion before the

development of peripheral neuropathy.

[Guest guest]

What age would be considered early onset? I had an MRI and I was told I

had the healthiest brain the neurologist had ever seen. I had cmt in the

first decade .

In a message dated 7/1/2010 10:35:08 A.M. Pacific Daylight Time,

-owner writes:

J Neurol Neurosurg Psychiatry. 2010 Jun 28

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and

brain involvement.

Chung KW, Suh BC, Cho SY, Choi SK, Kang SH, Yoo JH, Hwang JY, Choi BO.

Department of Biological Science, Kongju National University, Gongju,

Korea.

Abstract

Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most

common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A

prospective brain MRI study was performed on 18 early-onset CMT patients with

MFN2 mutations, and a high frequency (39%) of brain abnormalities was

found.

Early-onset patients showed multiple scattered or confluent brain lesions

that involved gray matter as well as white matter. Patterns of brain

involvement in early-onset patients differed from those of late-onset patients

and other hereditary peripheral neuropathies.

In addition, one CMT patient demonstrated a brain lesion before the

development of peripheral neuropathy.

[Guest guest]

,

I don't know for sure, but I am supposing early-onset would be from 0-5 years

old. This article refers to * Axonal * CMT, which is Type 2. Like I have. No

MRI's invented yet when I was a kid. Much later in life, after a fall from a

horse, the neurologist told me my CAT scan showed 'enlarged brain ventricles'. I

said " oh " - like who cares? To this day that piece of news has done nothing one

way or another. On the other hand maybe it's why I don't sleep because I'm

always thinking of new ideas, lol

Gretchen

[Guest guest]

This looks very similar to what they are now discovering about MS and brain

lesions caused by venous insufficiency.

It wouldn't surprise me to find some instances of peripheral neuropathy which

are due to the brain not being able to adequately 'dump' out old blood, vis a

vis CCSVI.

>

> J Neurol Neurosurg Psychiatry. 2010 Jun 28

>

> Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain

involvement.

>

>

> Chung KW, Suh BC, Cho SY, Choi SK, Kang SH, Yoo JH, Hwang JY, Choi BO.

>

> Department of Biological Science, Kongju National University, Gongju, Korea.

>

> Abstract

> Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most

common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A

prospective brain MRI study was performed on 18 early-onset CMT patients with

MFN2 mutations, and a high frequency (39%) of brain abnormalities was found.

>

> Early-onset patients showed multiple scattered or confluent brain lesions that

involved gray matter as well as white matter. Patterns of brain involvement in

early-onset patients differed from those of late-onset patients and other

hereditary peripheral neuropathies.

>

> In addition, one CMT patient demonstrated a brain lesion before the

development of peripheral neuropathy.

>