title: Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.
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.
authors.affiliation: Department of Neurology, JeJu National University Hospital, JeJu 690-767, Korea.
authors.forename: Jung-Hwan
authors.initials: JH
authors.lastname: Oh
authors.affiliation: Department of Neurology, Seoul National University Hospital, Seoul 110-744, Korea.
authors.forename: Han Sang
authors.initials: HS
authors.lastname: Lee
authors.affiliation: Department of Ophthalmology, JeJu National University Hospital, JeJu 690-767, Korea.
authors.forename: Dong Min
authors.initials: DM
authors.lastname: Cha
authors.affiliation: Department of Neurology, JeJu National University Hospital, JeJu 690-767, Korea.
authors.forename: Sa-Yoon
authors.initials: SY
authors.lastname: Kang
keywords: hereditary motor and sensory neuropathy; magnetic resonance imaging; mitochondria; mitofusin