C19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister complained of cramps and exercise intolerance. Clinical examination of the boy mainly showed distal amyotrophy and mild weakness, while the sister predominantly had a tetrapyramidal syndrome. Widespread chronic neurogenic signs and hypointense signals on the striatum were present in both patients. Clinical exome sequencing identified, on both patients, the compound heterozygous pathogenic mutations c.204_214del p.(Gly69ArgfsTer10) and c.32C>T p.(Thr11Met). The description of these rare SPG43 and ALS-like phenotypes in the same family contributes to improve genotype-phenotype correlation in C19orf12-related diseases.

C 19orf12基因双等位基因突变主要导致具有脑铁积累的神经变性4。一名 15 岁的男性和他 17 岁的妹妹抱怨抽筋和运动不耐受。男孩的临床检查主要表现为远端肌萎缩和轻度无力，而妹妹则以四锥体综合征为主。两名患者均在纹状体上出现广泛的慢性神经源性体征和低信号。临床外显子组测序在这两名患者身上鉴定出复合杂合致病突变 c.204_214del p.(Gly69ArgfsTer10) 和 c.32C>T p.(Thr11Met)。对同一家族中这些罕见的 SPG43 和 ALS 样表型的描述有助于改善C19orf12相关疾病中的基因型-表型相关性。