Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S
Department of Neurology, Brain Research Institute, Niigata University, Japan.
Neurology. 1997 Dec;49(6):1630-5. doi: 10.1212/wnl.49.6.1630.
Charcot-Marie-Tooth disease type 2 (CMT2) is characterized by a motor conduction velocity of the median nerve of > 38 m/sec and is a genetically heterogeneous disorder with at least three loci identified: CMT2A (1p35-36), CMT2B (3q13-22), CMT2C (not linked to any known loci), and CMT2D (7p14). In this study, we performed linkage analysis of two Japanese CMT2 families using markers flanking the CMT2A, CMT2B, and CMT2D loci. The highest cumulative multipoint lod score of 3.69 was obtained at D1S244. The CMT2B and CMT2D loci were excluded by the results of linkage analysis performed using markers D3S1551, D3S1290, and D7S484. The clinical features of the CMT2A affecting the two families include similar levels of muscle weakness of the posterior and anterior tibial muscles, tendon reflexes preserved in upper extremities but reduced or absent in lower extremities, no enlargement of the peripheral nerves, and mild sensory disturbance in only 20% of affected individuals.
2型夏科-马里-图斯病（CMT2）的特征是正中神经运动传导速度>38米/秒，是一种具有遗传异质性的疾病，已确定至少有三个基因座：CMT2A（1p35 - 36）、CMT2B（3q13 - 22）、CMT2C（未与任何已知基因座连锁）和CMT2D（7p14）。在本研究中，我们使用位于CMT2A、CMT2B和CMT2D基因座侧翼的标记对两个日本CMT2家系进行了连锁分析。在D1S244处获得了最高累积多点对数优势分数3.69。使用标记D3S1551、D3S1290和D7S484进行连锁分析的结果排除了CMT2B和CMT2D基因座。影响这两个家系的CMT2A的临床特征包括胫前肌和胫后肌相似程度的肌无力、上肢腱反射保留但下肢腱反射减弱或消失、周围神经无增粗以及仅20%的受累个体有轻度感觉障碍。
