TitleAdult-onset demyelinating neuropathy associated with FBLN5 gene mutation
AuthorsCheng, Si
Lv, He
Zhang, Wei
Wang, Zhaoxia
Shi, Xin
Liang, Wei
Yuan, Yun
AffiliationPeking Univ, Hosp 1, Dept Neurol, Beijing, Peoples R China.
8 Xishenku Ave, Beijing 100034, Peoples R China.
KeywordsFBLN5
Charcot-Marie-Tooth disease
demyelinating neuropathy
nerve ultrasound
CERVICAL NERVE ROOTS
ULNAR NERVES
DISEASE
ENLARGEMENT
CMT1A
LINK
ROS
Issue Date2017
PublisherCLINICAL NEUROPATHOLOGY
CitationCLINICAL NEUROPATHOLOGY.2017,36(4),171-177.
AbstractRare 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.
URIhttp://hdl.handle.net/20.500.11897/472443
ISSN0722-5091
DOI10.5414/NP301011
IndexedSCI(E)
Appears in Collections:第一医院

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