Mancardi G L, Uccelli A, Bellone E, Sghirlanzoni A, Mandich P, Pareyson D, Schenone A, Abbruzzese M, Ajmar F
Institute of Neurology, University of Genova, Italy.
Eur Neurol. 1994;34(3):135-9. doi: 10.1159/000117026.
We investigated the presence of duplication in chromosome 17p11.2 in 4 individuals with sporadic Charcot-Marie-Tooth disease (CMT 1) and 1 isolated case where a definite differential diagnosis between CMT 1 and Déjérine-Sottas disease was not achieved. The 5 affected cases and their parents and relatives were submitted to a complete clinical, neurophysiologic and genetic evaluation. A sural nerve biopsy was performed in all the isolated patients. Paternity was tested and confirmed. The presence of DNA duplication was detected in all the sporadic cases and was absent in all parents and relatives, thus confirming that a de novo dominant mutation is commonly present also in patients without a familial history and that there is a practical relevance of the genetic study in distinguishing isolated cases of CMT 1 from other forms of hereditary motor and sensory neuropathies or demyelinating neuropathies.
我们对4例散发型夏科-马里-图思病（CMT 1型）患者以及1例无法明确鉴别CMT 1型与德热里纳-索塔斯病的孤立病例进行了17号染色体短臂11.2区（17p11.2）重复情况的研究。这5例受累患者及其父母和亲属均接受了全面的临床、神经生理学和遗传学评估。所有孤立患者均进行了腓肠神经活检。进行了亲子鉴定并得到证实。在所有散发型病例中均检测到DNA重复，而所有父母和亲属中均未检测到，从而证实新发显性突变在无家族病史的患者中也普遍存在，并且遗传学研究对于区分孤立的CMT 1型病例与其他形式的遗传性运动和感觉神经病或脱髓鞘性神经病具有实际意义。
