Clinical features of a family with late‐onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1

• DOI: 10.1111/jns.12567
• Publication Date: 2023-05-30T10:30:09Z
• Authors: Hiroya Naruse; So Okubo; Atsushi Sudo; Jun Mitsui; Takashi Mikata; Hiroyuki Ishiura; Shinichi Morishita; Shoji Tsuji; Tatsushi Toda
• Keywords: Proband; Subclinical infection

Pathogenic variants of HSPB1, the gene encoding small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and Charcot-Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed describe clinical features patients in a family late-onset dHMN carrying Pro39Leu variant HSPB1.Whole-exome sequence analysis identified heterozygous pathogenic (Pro39Leu) HSPB1 proband. The presence two affected individuals was confirmed using direct nucleotide analysis.Both exhibited muscle weakness lower extremity predominance no obvious deficits, leading diagnosis dHMN. Nerve conduction studies (NCSs) revealed subclinical complication disturbance one patients. electrophysiological findings this previous reports are summarized.This suggests that spectrum variants, especially onset, might be broader than expected, should considered diagnosed Furthermore, may concomitant deficits evaluated NCSs.