Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
复制标题
遗传性感觉神经病和明显无力家族的表型和遗传学研究
作者：
O. Dubourg;Choukri Barhoumi;H. Azzedine;N. Birouk;A. Brice;P. Bouche;E. Leguern
我们报告的临床和电生理特征的六个成员法国家庭与显性遗传运动和感觉神经病变。平均发病年龄33.6±9.1岁。平均检查年龄为55.5±13.3岁。临床表现：遗传性感觉和自主神经病变I型（HSAN‐I）伴有明显的远端肌无力。5名男性患者表现为四肢远端，尤其是腿部的感觉症状。除一人外，所有人都有营养改变的历史，包括愈合不良的足部溃疡。肌肉无力和消瘦总是存在，往往严重，主要影响脚趾和脚的背屈。1例65岁专性女性携带者临床无症状。电生理结果与远端轴突运动和感觉神经病变一致。连锁分析的结果排除了Charcot - Marie - Tooth 2A （CMT2A）和CMT2B位点，并提示可能与9q22.1-q22.3上的HSAN - I位点有连锁。©2000 John Wiley & Sons, Inc神经科学进展（英文版）；2009。
We report the clinical and electrophysiological features of six members of a French family with a dominantly inherited motor and sensory neuropathy. Mean age at onset was 33.6 ± 9.1 years. Mean age at examination was 55.5 ± 13.3 years. Clinical presentation combined symptoms of hereditary sensory and autonomic neuropathy type I (HSAN‐I) with prominent distal muscle weakness. Five male patients presented with sensory symptoms involving the distal part of the limbs, especially the legs. All but one had histories of trophic alterations, consisting of poorly healing foot ulcers. Muscle weakness and wasting were always present, often severe, and mainly affected dorsiflexion of the toes and feet. One obligate female carrier aged 65 was clinically asymptomatic. Electrophysiological findings were consistent with a distal axonal motor and sensory neuropathy. Results of linkage analysis excluded the Charcot‐Marie‐Tooth 2A (CMT2A) and CMT2B loci and suggested the possibility of a linkage to HSAN‐I locus on 9q22.1–q22.3. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1508–1514, 2000.
常染色体显性 2 型夏科-马里-图思病基因 (CMT2A) 定位于染色体 1p 以及遗传异质性的证据。
影响因子：
4.4
作者：
BenOthmane,K;Middleton,LT;Loprest,LJ;Wilkinson,KM;Lennon,F;Rozear,MP;Stajich,JM;Gaskell,PC;Roses,AD;Pericak-Vance,MA
通讯作者：
Pericak-Vance,MA
将第二个 Charcot-Marie-Tooth II 型基因座分配给染色体 3q。
影响因子：
9.8
作者：
Kwon,JM;Elliott,JL;Yee,WC;Ivanovich,J;Scavarda,NJ;Moolsintong,PJ;Goodfellow,PJ
通讯作者：
Goodfellow,PJ
将 1 型遗传性感觉和自主神经病错误分类为 2B 型夏科-玛丽-图思病，并将其与此联系起来。
影响因子：
9.8
作者：
Vance,JM;Speer,MC;Stajich,JM;West,S;Wolpert,C;Gaskell,P;Lennon,F;Tim,RM;Rozear,M;Othmane,KB
通讯作者：
Othmane,KB