title: Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
abstract: Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia. However, since the first dHMN7B patient with a DCTN1 mutation was described in 2003, to the best of our knowledge no further cases have been reported. In the present study, the DCTN1 p.G59S mutation was identified in two unrelated families from a total of 24 Korean families with dHMN, by whole exome sequencing. Codon 59 appears to be the mutational hot spot in the DCTN1 gene, as all described dHMN7B patients to date have harbored an identical p.G59S mutation. The families of the present study with the DCTN1 mutation had a milder disease with a later onset compared with the previously described patients. No affected family members exhibited facial muscle weakness or bulbar involvement. One family member demonstrated vocal cord palsy as the initial sign of disease; however, in the other family hand muscle weakness was the first major symptom. No affected patients demonstrated sensory loss or upper motor neuron involvements. Although this is only the second report of dHMN7B resulting from a DCTN1 mutation, the frequency of the DCTN1 mutation was not low in the Korean population examined, and clinical heterogeneities were observed in patients with the DCTN1 mutation. Therefore, it may be beneficial to screen all dHMN patients for the DCTN1 mutation.
authors: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
authors: Sun Hee
authors: SH
authors: Hwang
authors: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
authors: Eun Ja
authors: EJ
authors: Kim
authors: Stem Cell & Regenerative Medicine Center, Samsung Medical Center, Seoul 06351, Republic of Korea.
authors: Young Bin
authors: YB
authors: Hong
authors: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
authors: Jaesoon
authors: J
authors: Joo
authors: Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea.
authors: Sung Min
authors: SM
authors: Kim
authors: Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea.
authors: Soo Hyun
authors: SH
authors: Nam
authors: Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea.
authors: Hyun Dae
authors: HD
authors: Hong
authors: Department of Neurology, Hanyang University College of Medicine, Seoul 04763, Republic of Korea.
authors: Seung Hyun
authors: SH
authors: Kim
authors: Department of Neurology, Hanyang University College of Medicine, Seoul 04763, Republic of Korea.
authors: Kiwook
authors: K
authors: Oh
authors: Department of Neurology, Keimyung University College of Medicine, Daegu 42403, Republic of Korea.
authors: Jeong-Geun
authors: JG
authors: Lim
authors: Department of Neurology, National Health Insurance Corporation Ilsan Hospital, Goyang, Gyeonggi 10444, Republic of Korea.
authors: Jeong Hee
authors: JH
authors: Cho
authors: Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea.
authors: Ki Wha
authors: KW
authors: Chung
authors: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
authors: Byung-Ok
authors: BO
authors: Choi
mesh_terms: D000328:Adult; D000072159:Dynactin Complex / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D017354:Point Mutation