Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. Issue 11 (28th June 2010)

• Record Type: Journal Article
• Authors: Chung, K W; Suh, B C; Cho, S Y; Choi, S K; Kang, S H; Yoo, J H; Hwang, J Y; Choi, B O
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 81:Issue 11(2010)
• Page Start: 1203
• Page End: 1206
• Publication Date: 2010-06-28
• Subjects: Charcot-Marie-Tooth disease -- magnetic resonance image -- mitofusin 2 -- neuropathy -- genetics -- HMSN (Charcot-Marie-Tooth) -- MRI; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2009.181669
• Languages: English
• ISSNs: 0022-3050

Abstract

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.