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Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation

Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbne...

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Autores principales: Cheng, Si, Lv, He, Zhang, Wei, Wang, Zhaoxia, Shi, Xin, Liang, Wei, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541264/
https://www.ncbi.nlm.nih.gov/pubmed/28332470
http://dx.doi.org/10.5414/NP301011
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author Cheng, Si
Lv, He
Zhang, Wei
Wang, Zhaoxia
Shi, Xin
Liang, Wei
Yuan, Yun
author_facet Cheng, Si
Lv, He
Zhang, Wei
Wang, Zhaoxia
Shi, Xin
Liang, Wei
Yuan, Yun
author_sort Cheng, Si
collection PubMed
description Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and had mild polyneuropathy. His 16-year-old daughter was asymptomatic. The nerve conduction velocities (NCVs) and compound muscular action potential (CMAP) amplitudes were moderately to severely reduced in the proband, and moderately reduced in his daughter and mother. A sensory response could not be elicited in the proband and was moderately to severely decreased in the daughter and mother. Nerve ultrasound indicated a general enlargement of the peripheral nerves in the proband, daughter, and mother. A sural nerve biopsy from the proband demonstrated a pronounced depletion of myelinated fibers, thin myelinated fibers, and onion-bulb formations. A reported heterozygous mutation of c.1117C>T in FBLN5 was identified in the proband, mother, and daughter. These findings confirm a novel subtype of AD-CMT 1 due to a mutation in the FBLN5 gene.
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spelling pubmed-55412642017-08-08 Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation Cheng, Si Lv, He Zhang, Wei Wang, Zhaoxia Shi, Xin Liang, Wei Yuan, Yun Clin Neuropathol Research Article Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and had mild polyneuropathy. His 16-year-old daughter was asymptomatic. The nerve conduction velocities (NCVs) and compound muscular action potential (CMAP) amplitudes were moderately to severely reduced in the proband, and moderately reduced in his daughter and mother. A sensory response could not be elicited in the proband and was moderately to severely decreased in the daughter and mother. Nerve ultrasound indicated a general enlargement of the peripheral nerves in the proband, daughter, and mother. A sural nerve biopsy from the proband demonstrated a pronounced depletion of myelinated fibers, thin myelinated fibers, and onion-bulb formations. A reported heterozygous mutation of c.1117C>T in FBLN5 was identified in the proband, mother, and daughter. These findings confirm a novel subtype of AD-CMT 1 due to a mutation in the FBLN5 gene. Dustri-Verlag Dr. Karl Feistle 2017 2017-03-23 /pmc/articles/PMC5541264/ /pubmed/28332470 http://dx.doi.org/10.5414/NP301011 Text en © Dustri-Verlag Dr. K. Feistle http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Cheng, Si
Lv, He
Zhang, Wei
Wang, Zhaoxia
Shi, Xin
Liang, Wei
Yuan, Yun
Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation
title Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation
title_full Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation
title_fullStr Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation
title_full_unstemmed Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation
title_short Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation
title_sort adult-onset demyelinating neuropathy associated with fbln5 gene mutation
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541264/
https://www.ncbi.nlm.nih.gov/pubmed/28332470
http://dx.doi.org/10.5414/NP301011
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