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A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature
Author(s) -
Taga Arens,
Cornblath David R.
Publication year - 2020
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12395
Subject(s) - phenotype , mutation , medicine , presentation (obstetrics) , genetics , gene , pathology , biology , bioinformatics , neuroscience , surgery
Mutations in the HSPB1 gene are associated with Charcot‐Marie‐Tooth (CMT) disease type 2F (CMT2F) and distal hereditary motor neuropathy type 2 (dHMN2). More than 18 pathogenic mutations spanning across the whole HSPB1 gene have been reported. Three family members with a novel p.P57S (c.169C>T) HSPB1 mutation resulting in a late onset axonal neuropathy with heterogeneous clinical and electrophysiological features are detailed. We systematically reviewed published case reports and case series on HSPB1 mutations. While a genotype‐phenotype correlation was not obvious, we identified a common phenotype, which included adult onset, male predominance, motor more frequently than sensory involvement, distal and symmetric distribution with preferential involvement of plantar flexors, and a motor and axonal electrophysiological picture.