ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) (Kennerson et al., 2010). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein (Møller, 2015). Thus far OHS and SMAX3 only partially overlap. In fact patients with OHS usually have no distal motor neuropathy signs but, on the other hand, occipital horns, which are the main sign of OHS, have not been described in SMAX3 patient. We describe here a patient bearing a missense ATP7A mutation with associated signs of distal motor neuropathy as well as occipital horns, confirming that OHS and SMAX3 are a continuum.

ATP7A相关的铜转运疾病根据其严重性通常分为三种病理，均以X连锁隐性方式遗传：Menkes病（MD，OMIM＃309400），占90％以上；枕部角质综合症（OHS，OMIM＃304150）和ATP7A相关的远端运动神经病也称为X连锁远端脊髓性肌萎缩症3（SMAX3，OMIM＃300489）（Kennerson等，2010）尽管ATP7A中的铜和铜蓝蛋白水平之间没有明确的相关性相关疾病，这三个实体可能代表一个连续体，部分取决于残余的功能性ATP7A蛋白（Møller，2015年）。到目前为止，OHS和SMAX3仅部分重叠。实际上，患有OHS的患者通常没有远端运动神经病变征，但另一方面，SMAX3患者并未描述作为OHS的主要征象的枕角。我们在这里描述了一个患者，该患者带有一个错义的ATP7A突变，并伴有远端运动神经病以及枕骨角的相关体征，证实了OHS和SMAX3是一个连续体。