PDF(Pubmed)
Abstract：
UNASSIGNED: Recessive mutations in the gene encoding the histidine triad nucleotide-binding protein 1 (HINT1) are associated with axonal motor-predominant Charcot-Marie-Tooth (CMT) disease with neuromyotonia. A total of 24 HINT1 gene mutations have been reported so far. Some of these cases had mild to moderate elevations of creatinine kinase with no earlier reports of muscle biopsy findings in these cases. In this study, we describe a patient with axonal motor-predominant neuropathy and myopathy with rimmed vacuoles, likely due to a novel HINT1 gene mutation.
UNASSIGNED: A 35-year-old African American man presented with insidious onset and progressive symmetric distal leg weakness followed by hand muscle atrophy and weakness since the age of 25. He had no muscle cramps or sensory complaints. His 38-year-old brother developed similar symptoms beginning in his early 30 s. On neurologic examination, the patient had distal weakness and atrophy in all limbs, claw hands, pes cavus, absent Achilles reflexes, and normal sensory examination. Electrodiagnostic studies revealed absent/reduced compound motor action potential amplitudes distally with normal sensory responses with no neuromyotonia. His sural nerve biopsy showed a chronic non-specific axonal neuropathy, and a biopsy of the tibialis anterior muscle demonstrated myopathic features and several muscle fibers harboring rimmed vacuoles without inflammation in addition to chronic denervation changes. A homozygous variant, p.I63N (c.188T > A), in the HINT1 gene was found in both brothers.
UNASSIGNED: We describe a novel, likely pathogenic, HINT1 pI63N (c.188T > A) homozygous variant associated with hereditary axonal motor-predominant neuropathy without neuromyotonia in two African American brothers. The presence of rimmed vacuoles on muscle biopsy raises the possibility that mutations in the HINT1 gene may also cause myopathy.
UNASSIGNED: A 35-year-old African American man presented with insidious onset and progressive symmetric distal leg weakness followed by hand muscle atrophy and weakness since the age of 25. He had no muscle cramps or sensory complaints. His 38-year-old brother developed similar symptoms beginning in his early 30 s. On neurologic examination, the patient had distal weakness and atrophy in all limbs, claw hands, pes cavus, absent Achilles reflexes, and normal sensory examination. Electrodiagnostic studies revealed absent/reduced compound motor action potential amplitudes distally with normal sensory responses with no neuromyotonia. His sural nerve biopsy showed a chronic non-specific axonal neuropathy, and a biopsy of the tibialis anterior muscle demonstrated myopathic features and several muscle fibers harboring rimmed vacuoles without inflammation in addition to chronic denervation changes. A homozygous variant, p.I63N (c.188T > A), in the HINT1 gene was found in both brothers.
UNASSIGNED: We describe a novel, likely pathogenic, HINT1 pI63N (c.188T > A) homozygous variant associated with hereditary axonal motor-predominant neuropathy without neuromyotonia in two African American brothers. The presence of rimmed vacuoles on muscle biopsy raises the possibility that mutations in the HINT1 gene may also cause myopathy.
摘要：
未经证实:编码组氨酸三联体核苷酸结合蛋白1(HINT1)的基因中的隐性突变与伴有神经肌强直的轴突运动占优势的Charcot-Marie-Tooth(CMT)疾病相关。迄今为止,已经报道了总共24个HINT1基因突变。其中一些病例的肌酐激酶轻度至中度升高，这些病例中没有肌肉活检结果的早期报道。在这项研究中,我们描述了一个轴索运动为主的神经病和肌病，有边缘空泡的患者，可能是由于一种新的HINT1基因突变。
UNASSIGNED：一名35岁的非洲裔美国人从25岁开始出现隐匿的起病和进行性对称的腿部远端无力，随后出现手部肌肉萎缩和无力。他没有肌肉痉挛或感觉不适。他38岁的哥哥从30岁出头就出现了类似的症状。在神经检查中，患者四肢远端无力和萎缩，爪手，pescavus,没有跟腱反射，和正常的感官检查。电诊断研究显示，远端复合运动动作电位振幅缺失/降低，感觉反应正常，无神经肌强直。他的腓肠神经活检显示慢性非特异性轴索神经病,胫骨前肌的活检显示出肌病特征，除了慢性去神经支配变化外，还有一些带有边缘空泡的肌纤维，没有炎症。纯合变体，p.I63N(c.188T>A)，在两个兄弟中都发现了HINT1基因。
未经批准：我们描述了一部小说，可能致病，HINT1pI63N(c.188T>A)纯合子变异与两个非洲裔美国兄弟中无神经肌强直的遗传性轴突运动型神经病相关。肌肉活检中边缘空泡的存在增加了HINT1基因突变也可能导致肌病的可能性。
UNASSIGNED：一名35岁的非洲裔美国人从25岁开始出现隐匿的起病和进行性对称的腿部远端无力，随后出现手部肌肉萎缩和无力。
未经批准：我们描述了一部小说，
