Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.
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ABSTRACT:
SUBMITTER: Oh JH
PROVIDER: S-EPMC4174619 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
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Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.
Oh Jung-Hwan JH Lee Han Sang HS Cha Dong Min DM Kang Sa-Yoon SY
Experimental neurobiology 20140918 3
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. ...[more]
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