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

Jung-Hwan Oh; Han Sang Lee; Dong Min Cha; Sa-Yoon Kang

doi:10.5607/en.2014.23.3.266

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

Exp Neurobiol. 2014 Sep;23(3):266-9. doi: 10.5607/en.2014.23.3.266. Epub 2014 Sep 18.

Authors

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

Affiliations

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

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.

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

Publication types

Case Reports