Exp Neurobiol.  2014 Sep;23(3):266-269. 10.5607/en.2014.23.3.266.

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

• Oh JH
• Lee HS
• Cha DM
• Kang SY

• KMID: 2165532
• DOI: http://doi.org/10.5607/en.2014.23.3.266

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.

Keyword

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

MeSH Terms

Brain
Central Nervous System
Charcot-Marie-Tooth Disease
Hereditary Sensory and Motor Neuropathy*
Humans
Magnetic Resonance Imaging
Mitochondria
Optic Atrophy