A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation

被引：40
|
作者：
Ikeda, Yoshihisa [1 ]
Abe, Akiko [2 ]
Ishida, Chiho [1 ,3 ]
Takahashi, Kazuya [1 ,3 ]
Hayasaka, Kiyoshi [2 ]
Yamada, Masahito [1 ]
机构：
[1] Kanazawa Univ, Grad Sch Med Sci, Dept Neurol & Neurobiol Aging, Kanazawa, Ishikawa 9208640, Japan
[2] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 99023, Japan
[3] Iou Hosp, Natl Hosp Org, Dept Neurol, Kanazawa, Ishikawa, Japan
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2009年 / 277卷 / 1-2期
关键词：
Distal HMN II; CMT2F; HSP; Late onset; DM; Peripheral nervous systems; MARIE-TOOTH-DISEASE; HEAT-SHOCK PROTEINS; NEUROPATHY; CATARACT; CRYAA; HSP27; PHOSPHORYLATION; MICROCORNEA; EXPRESSION; RESISTANCE;
D O I：
10.1016/j.jns.2008.09.031
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report a Japanese family with distal hereditary motor neuronopathy type II (distal HMN II) due to a novel K141Q mutation in heat-shock 27-kDa protein 1 gene (HSPB1/HSP27). A 47-year-old man (proband) with diabetes mellitus (DM) developed distal wasting and weakness of the legs and severe autonomic dysfunctions in his early forties, while his father and grandfather, without DM, demonstrated slowly progressive muscular wasting and weakness in all limbs still later in life. This mutation appears linked with the late-onset clinical phenotype as distal HMN II. Severe autonomic disturbances in the proband were probably due to uncontrolled DM, but may have been related to HSPB1 mutation. (C) 2008 Elsevier B.V. All rights reserved.
引用
收藏
页码：9 / 12
页数：4
相关论文
共 50 条
  • [1] Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
    Lewis-Smith, D. J.
    Duff, J.
    Pyle, A.
    Griffin, H.
    Polvikoski, T.
    Birchall, D.
    Horvath, R.
    Chinnery, P. F.
    NEUROLOGY-GENETICS, 2016, 2 (06)
  • [2] REPORT OF A NOVEL HSPB1 MUTATION IN A PATIENT WITH CLINICAL AND ELECTROPHYSIOLOGICAL EVIDENCE OF DISTAL HEREDITARY MOTOR NEUROPATHY
    Schirinzi, E.
    Lucchesi, C.
    Mostacciuolo, M. L.
    Boaretto, F.
    Benedetti, L.
    Ienco, Caldarazzo E.
    Bugelli, G.
    Del Sette, M.
    Siciliano, G.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2014, 19 : S30 - S31
  • [3] Two distal hereditary motor neuropathy families with mutation of HSPB8 or HSPB1
    Choi, B-O.
    Jung, H-K.
    Hyun, J. W.
    Kim, S-H.
    Kim, Y. J.
    Park, J. H.
    Chung, K. W.
    JOURNAL OF NEUROLOGY, 2012, 259 : S120 - S121
  • [4] Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila
    Kang, Kyong-hwa
    Han, Ji Eun
    Hong, Young Bin
    Nam, Soo Hyun
    Choi, Byung-Ok
    Koh, Hyongjong
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2020, 521 (01) : 220 - 226
  • [5] Autosomal dominant distal hereditary motor neuropathy type II: a Korean family without sequence variation in HSPB1 and HSPB8
    Lee, Sang-Soo
    Moon, So-Young
    Kim, Ji-Seon
    Ki, Chang-Seok
    NEUROLOGY ASIA, 2012, 17 (03) : 235 - 237
  • [6] HOMOZYGOUS MUTATION IN HSPB1 CAUSING DISTAL VACUOLAR MYOPATHY AND MOTOR NEUROPATHY
    Bugiardini, Enrico
    Rossor, Alexander M.
    Lynch, David S.
    Swash, Michael
    Pittman, Alan M.
    Blake, Julian C.
    Hanna, Michael G.
    Houlden, Henry
    Holton, Janice L.
    Reilly, Mary M.
    Matthews, Emma
    NEUROLOGY-GENETICS, 2017, 3 (04)
  • [7] A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes
    Ackerley, S
    James, PA
    Kalli, A
    French, S
    Davies, KE
    Talbot, K
    HUMAN MOLECULAR GENETICS, 2006, 15 (02) : 347 - 354
  • [8] Distal hereditary motor neuronopathy of the Jerash type
    Middleton, LT
    Christodoulou, K
    Mubaidin, A
    Zamba, E
    Tsingis, M
    Kyriacou, K
    Abu-Sheikh, S
    Kyriakides, T
    Neocleous, V
    Georgiou, DM
    El-Khateeb, M
    Al-Qudah, A
    Horany, K
    CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 : 65 - 68
  • [9] Distal hereditary motor neuronopathy of the Jerash type
    Middleton, LT
    Christodoulou, K
    Mubaidin, A
    Zamba, E
    Tsingis, M
    Kyriacou, K
    Abu-Sheikh, S
    Kyriakides, T
    Neocleous, V
    Georgiou, DM
    El-Khateeb, M
    Al-Qudah, A
    Horany, K
    CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 : 439 - 442
  • [10] PHENOTYPIC SPECTRUM AND INCIDENCE OF HSPB1, HSPB3 AND HSPB8 MUTATIONS IN PATIENTS WITH DISTAL HEREDITARY MOTOR NEUROPATHY
    Echaniz-Laguna, A.
    Petiot, P.
    Pereon, Y.
    Salachas, F.
    Delmont, E.
    Pouget, J.
    Morales, R.
    Goizet, C.
    Latour, P.
    Stojkovic, T.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (02) : 135 - 135
12345