RT Journal Article
SR Electronic
T1 Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 1203
OP 1206
DO 10.1136/jnnp.2009.181669
VO 81
IS 11
A1 K W Chung
A1 B C Suh
A1 S Y Cho
A1 S K Choi
A1 S H Kang
A1 J H Yoo
A1 J Y Hwang
A1 B O Choi
YR 2010
UL http://jnnp.bmj.com/content/81/11/1203.abstract
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.