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Case Report

Exp Neurobiol 2014; 23(3): 266-269

Published online September 30, 2014

© The Korean Society for Brain and Neural Sciences

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

Jung-Hwan Oh1, Han Sang Lee2, Dong Min Cha3 and Sa-Yoon Kang1*

1Department of Neurology, JeJu National University Hospital , JeJu 690-767, 2Department of Neurology, Seoul National University Hospital, Seoul 110-744, 3Department of Ophthalmology, JeJu National University Hospital, JeJu 690-767, Korea

Correspondence to: *To whom correspondence should be addressed.
TEL: 82-64-717-1620, FAX: 82-64-757-8276

Received: August 10, 2014; Revised: August 28, 2014; Accepted: August 30, 2014


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.

Keywords: hereditary motor and sensory neuropathy, magnetic resonance imaging, mitofusin, mitochondria