Experimental Neurobiology  2014;23(3):266-269

doi:10.5607/en.2014.23.3.266

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

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

Affiliations

+expand

Keywords

hereditary motor and sensory neuropathy; magnetic resonance imaging; mitofusin; mitochondria

Country

Republic 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.