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KMID : 0892920140230030266
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Experimental Neurobiology
2014 Volume.23 No. 3 p.266 ~ p.269
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Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
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Oh Jung-Hwan
Lee Han-Sang
Cha Dong-Min
Kang Sa-Yoon
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Abstract
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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.
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KEYWORD
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hereditary motor and sensory neuropathy, magnetic resonance imaging, mitofusin, mitochondria
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