PT  - JOURNAL ARTICLE
AU  - K W Chung
AU  - B C Suh
AU  - S Y Cho
AU  - S K Choi
AU  - S H Kang
AU  - J H Yoo
AU  - J Y Hwang
AU  - B O Choi
TI  - Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
AID  - 10.1136/jnnp.2009.181669
DP  - 2010 Nov 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 1203--1206
VI  - 81
IP  - 11
4099  - http://jnnp.bmj.com/content/81/11/1203.short
4100  - http://jnnp.bmj.com/content/81/11/1203.full
SO  - J Neurol Neurosurg Psychiatry2010 Nov 01; 81
AB  - 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.