Abstract：
Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare hereditary neuropathy within the Charcot-Marie-Tooth disease (CMT) spectrum, linked to mutations in the histidine triad nucleotide-binding protein 1 (HINT1) gene. HINT1-related neuropathy is particularly common in selected populations from Central and Eastern Europe but rare in Western European cohorts. It has not been investigated to date in the Greek population. We presently investigated the frequency of HINT1-neuropathy in a selected cohort of 42 Greek index patients with autosomal recessive or sporadic axonal hereditary neuropathy according to standard molecular genetics procedures. We identified 4 patients with biallelic mutations in HINT1, comprising 9.5% of all cases and 44.4% of cases also displaying neuromyotonia. The c.110G> C (p.Arg37Pro) HINT1 mutation was present in all cases (2 homozygous) and the c.250T> C (p.Cys84Arg) in 2 cases (compound heterozygous). HINT1-related neuropathy patients were characterized by early onset and neuromyotonia. Two patients had noteworthy clinical features, one case developing myoclonic epilepsy and the other displaying \"adducted thumbs.\" We conclude that HINT1-related neuropathy is common in selected Greek patients with hereditary neuropathy within the CMT spectrum, in accordance with some, but not all, European populations.
摘要：
伴有神经肌强直的常染色体隐性遗传性轴索神经病（ARAN-NM）是Charcot-Marie-Tooth病（CMT）范围内的一种罕见遗传性神经病，与组氨酸三联体核苷酸结合蛋白1（HINT1）基因的突变有关。HINT1相关神经病在中欧和东欧的特定人群中特别常见，但在西欧人群中很少见。迄今为止，尚未在希腊人口中进行过调查。我们目前根据标准分子遗传学程序，在42名常染色体隐性遗传或散发性轴突遗传性神经病的希腊指数患者中，研究了HINT1神经病变的频率。我们确定了4例HINT1双等位基因突变的患者，占所有病例的9.5％，以及44.4％的病例也表现出神经肌强直。c.110G>C（p。Arg37Pro）HINT1突变在所有情况下都存在（2纯合），并且c.250T>C（p。Cys84Arg)2例(复合杂合)。HINT1相关神经病变患者的特征是早发性和神经肌强直。两名患者有值得注意的临床特征，1例发展为肌阵挛性癫痫，另一例显示“内收拇指”。“我们得出的结论是，HINT1相关的神经病在CMT范围内的遗传性神经病的希腊患者中很常见，根据一些，但不是全部,欧洲人口。
