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

页码：9 / 12

页数：4

共 50 条

[41] Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)
James, P. A.
Rankin, J.
Talbot, K.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2008, 79 (04): : 461 - 463
[42] A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family
Amornvit, Jakkrit
Yalvac, Mehmet E.
Chen, Lei
Sahenk, Zarife
BRAIN AND BEHAVIOR, 2017, 7 (08):
[43] HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons
Heilman, Patrick L.
Song, SungWon
Miranda, Carlos J.
Meyer, Kathrin
Srivastava, Amit K.
Knapp, Amy
Wier, Christopher G.
Kaspar, Brian K.
Kolb, Stephen J.
EXPERIMENTAL NEUROLOGY, 2017, 297 : 101 - 109
[44] A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12
Christodoulou, K
Zamba, E
Tsingis, M
Mubaidin, A
Horani, K
Abu-Sheik, S
El-Khateeb, M
Kyriacou, K
Kyriakides, T
Al-Qudah, AK
Middleton, L
ANNALS OF NEUROLOGY, 2000, 48 (06) : 877 - 884
[45] A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family
Li, Jia-Qi
Dong, Hai-Lin
Chen, Cong-Xin
Wu, Zhi-Ying
BRAIN, 2019, 142
[46] Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
Irobi, J
Nelis, E
Verhoeven, K
De Vriendt, E
Dierick, I
De Jonghe, P
Van Broeckhoven, C
Timmerman, V
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2002, 7 (02) : 87 - 95
[47] Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V -: A clinical, electrophysiological and genetic study
Auer-Grumbach, M
Löscher, WN
Wagner, K
Petek, E
Körner, E
Offenbacher, H
Hartung, HP
BRAIN, 2000, 123 : 1612 - 1623
[48] Neuropathological findings from a human post mortem case of distal hereditary motor neuropathy (dHMN) due to p.Ser135Phe HSPB1 mutation and transgenic mice with mutant or wild-type HSP27 overexpression
Phadke, R.
Rossor, A.
Benoy, V.
Kalmar, B.
King, R.
Greensmith, L.
Bosch, L.
Reilly, M.
Houlden, H.
NEUROMUSCULAR DISORDERS, 2015, 25 : S283 - S283
[49] A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype
De Jonghe, P
Timmerman, V
Nelis, E
De Vriendt, E
Löfgren, A
Ceuterick, C
Martin, JJ
Van Broeckhoven, C
ARCHIVES OF NEUROLOGY, 1999, 56 (10) : 1283 - 1288
[50] Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene
Oberstadt, Moritz
Mitter, Diana
Classen, Joseph
Baum, Petra
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (02) : 111 - 113

← 1 2 3 4 5 →