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

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 m...

Descripción completa

Detalles Bibliográficos
Autores principales: Oh, Jung-Hwan, Lee, Han Sang, Cha, Dong Min, Kang, Sa-Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Brain and Neural Science 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174619/
https://www.ncbi.nlm.nih.gov/pubmed/25258575
http://dx.doi.org/10.5607/en.2014.23.3.266
_version_ 1782336369351196672
author Oh, Jung-Hwan
Lee, Han Sang
Cha, Dong Min
Kang, Sa-Yoon
author_facet Oh, Jung-Hwan
Lee, Han Sang
Cha, Dong Min
Kang, Sa-Yoon
author_sort Oh, Jung-Hwan
collection PubMed
description 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.
format Online
Article
Text
id pubmed-4174619
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher The Korean Society for Brain and Neural Science
record_format MEDLINE/PubMed
spelling pubmed-41746192014-09-25 Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement Oh, Jung-Hwan Lee, Han Sang Cha, Dong Min Kang, Sa-Yoon Exp Neurobiol Case Report 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. The Korean Society for Brain and Neural Science 2014-09 2014-09-18 /pmc/articles/PMC4174619/ /pubmed/25258575 http://dx.doi.org/10.5607/en.2014.23.3.266 Text en Copyright © Experimental Neurobiology 2014. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Oh, Jung-Hwan
Lee, Han Sang
Cha, Dong Min
Kang, Sa-Yoon
Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
title Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
title_full Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
title_fullStr Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
title_full_unstemmed Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
title_short Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
title_sort hereditary motor and sensory neuropathy type vi with bilateral middle cerebellar peduncle involvement
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174619/
https://www.ncbi.nlm.nih.gov/pubmed/25258575
http://dx.doi.org/10.5607/en.2014.23.3.266
work_keys_str_mv AT ohjunghwan hereditarymotorandsensoryneuropathytypeviwithbilateralmiddlecerebellarpeduncleinvolvement
AT leehansang hereditarymotorandsensoryneuropathytypeviwithbilateralmiddlecerebellarpeduncleinvolvement
AT chadongmin hereditarymotorandsensoryneuropathytypeviwithbilateralmiddlecerebellarpeduncleinvolvement
AT kangsayoon hereditarymotorandsensoryneuropathytypeviwithbilateralmiddlecerebellarpeduncleinvolvement

Ejemplares similares