Department of Neurology, Queen's Hospital, Romford, UK.
Department of Neurology, Queen's Hospital, Romford, UK
Pract Neurol. 2024 May 29;24(3):223-225. doi: 10.1136/pn-2023-003981.
A middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history. MR scan of brain showed bilateral caudate atrophy. Nerve conduction studies showed a predominantly sensory peripheral neuropathy. Serum creatine kinase was slightly elevated but electromyography showed no evidence of myopathy. Three consecutive peripheral blood films were negative for acanthocytes. Whole-genome sequencing confirmed a mutation in gene, consistent with autosomal recessive chorea-acanthocytosis.
一位中年亚裔男性，步态困难逐渐加重已有数年。其言语逐渐变得含糊不清，并伴有不自主的舌咬伤。他是近亲结婚的产物，无其他相关家族史。脑部磁共振成像显示双侧尾状核萎缩。神经传导研究显示主要为感觉性周围神经病。血清肌酸激酶略有升高，但肌电图检查未显示肌病证据。连续三张外周血片均未见棘红细胞。全基因组测序证实了基因中的突变，符合常染色体隐性舞蹈棘红细胞增多症。
