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

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

Author information

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

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