Service de Neurologie, CHU Mustapha Bacha, Algiers, Algeria.
Neuromuscul Disord. 2011 Aug;21(8):543-50. doi: 10.1016/j.nmd.2011.04.013. Epub 2011 Jul 7.
Autosomal recessive Charcot-Marie-Tooth diseases, relatively common in Algeria due to high prevalence of consanguineous marriages, are clinically and genetically heterogeneous. We report on two consanguineous families with demyelinating autosomal recessive Charcot-Marie-Tooth disease (CMT4) associated with novel homozygous mutations in the MTMR2 gene, c.331dupA (p.Arg111LysfsX24) and PRX gene, c.1090C>T (p.Arg364X) respectively, and peculiar clinical phenotypes. The three patients with MTMR2 mutations (CMT4B1 family) had a typical phenotype of severe early onset motor and sensory neuropathy with typical focally folded myelin on nerve biopsy. Associated clinical features included vocal cord paresis, prominent chest deformities and claw hands. Contrasting with the classical presentation of CMT4F (early-onset Dejerine-Sottas phenotype), the four patients with PRX mutations (CMT4F family) had essentially a late age of onset and a protracted and relatively benign evolution, although they presented marked spine deformities. These observations broaden the spectrum of clinical phenotypes associated with these two CMT4 forms.
常染色体隐性遗传性夏科-马里-图什病（Charcot-Marie-Tooth disease，CMT）在阿尔及利亚较为常见，这与高发的近亲结婚有关，其临床表现和遗传学均具有异质性。我们报道了两个近亲结婚的家族，其患有脱髓鞘常染色体隐性遗传性夏科-马里-图什病（CMT4），与 MTMR2 基因的新型纯合突变有关，c.331dupA（p.Arg111LysfsX24）和 PRX 基因 c.1090C>T（p.Arg364X），并具有独特的临床表型。携带 MTMR2 突变的 3 名患者（CMT4B1 家族）具有严重的早期起病的运动和感觉神经病的典型表型，神经活检显示典型的局灶折叠髓磷脂。相关的临床特征包括声带麻痹、明显的胸廓畸形和爪形手。与 CMT4F（早发型 Dejerine-Sottas 表型）的经典表现相反，携带 PRX 突变的 4 名患者（CMT4F 家族）发病年龄较晚，病程较长且相对良性，尽管他们存在明显的脊柱畸形。这些观察结果拓宽了这两种 CMT4 形式相关的临床表型谱。
