Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
Experimental Neurobiology
;
: 266-269, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-50919
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encéfalo
/
Imageamento por Ressonância Magnética
/
Neuropatia Hereditária Motora e Sensorial
/
Doença de Charcot-Marie-Tooth
/
Sistema Nervoso Central
/
Atrofia Óptica
/
Mitocôndrias
Limite:
Humanos
Idioma:
Inglês
Revista:
Experimental Neurobiology
Ano de publicação:
2014
Tipo de documento:
Artigo
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