Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.

Author: Jung Hwan OH ¹ ; Han Sang LEE ; Dong Min CHA ; Sa Yoon KANG
Author Information

1. Department of Neurology, JeJu National University Hospital, JeJu 690-767, Korea. neurokang@jejunu.ac.kr
Publication Type:Case Report
Keywords: hereditary motor and sensory neuropathy; magnetic resonance imaging; mitofusin; mitochondria
MeSH: Brain; Central Nervous System; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy*; Humans; Magnetic Resonance Imaging; Mitochondria; Optic Atrophy
From:Experimental Neurobiology 2014;23(3):266-269
CountryRepublic of Korea
Language:English
Abstract: Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.