早发性轴索性遗传性运动感觉神经病4A型患者GDAP1基因的新突变
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
作者信息
Moroni Isabella, Morbin Michela, Milani Micaela, Ciano Claudia, Bugiani Marianna, Pagliano Emanuela, Cavallaro Tiziana, Pareyson Davide, Taroni Franco
机构信息
Division of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, Milan, Italy.
出版信息
Neuromuscul Disord. 2009 Jul;19(7):476-80. doi: 10.1016/j.nmd.2009.04.014. Epub 2009 Jun 4.
We report a detailed study of eight patients from four Italian families presenting with autosomal recessive axonal Charcot-Marie-Tooth disease (AR-CMT2), characterized by early-onset and progressive severe weakness of all limbs. Vocal cord paresis was present in two cases. Sural nerve biopsy performed in three patients showed a severe neuropathy characterized by a predominant axonal involvement. Five novel mutations (p.Gln99stop, p.Gln122Lys, p.Arg125stop, p.Val219Asp, p.Asn297Lys) and one previously reported mutation (p.Leu239Phe) were identified in GDAP1 gene. GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal CMT.
我们报告了对来自四个意大利家庭的八名患者进行的详细研究，这些患者患有常染色体隐性遗传性轴索性夏科-马里-图斯病（AR-CMT2），其特征为所有肢体早发且进行性严重无力。两例患者存在声带麻痹。对三名患者进行的腓肠神经活检显示严重的神经病变，其特征为主要是轴突受累。在GDAP1基因中鉴定出五个新突变（p.Gln99stop、p.Gln122Lys、p.Arg125stop、p.Val219Asp、p.Asn297Lys）和一个先前报道的突变（p.Leu239Phe）。在早发性轴索性CMT的隐性和散发性病例中均应考虑GDAP1突变。
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