Chamard Ludivine, Sylvestre Géraldine, Koenig Michel, Magnin Eloi
Centre Mx00E9;moire Ressources et Recherche (CMRR), Service de Neurologie, CHRU Besanx00E7;on, Besanx00E7;on, France.
Eur Neurol. 2016;75(3-4):186-90. doi: 10.1159/000445109. Epub 2016 Apr 6.
ANO10 mutations have recently been reported in autosomal recessive cerebellar ataxia type 3 (ARCA3). The objective of this study was to describe the phenotype of 2 siblings with compound heterozygous ANO10 mutations and progressive cerebellar ataxia, epilepsy, and cognitive impairment. A porencephalic cyst was also described in one of them and a coenzyme Q10 deficiency in the other one.
We performed neurological, neuropsychological, electromyographic, electroencephalic and MRI examinations in 2 siblings with compound heterozygous ANO10 mutations.
We reported for the first time the neuropsychological profile of 2 ARCA3 patients showing an adult-onset executive and attentional syndrome. Both presented epilepsy. One of them presented a porencephalic cyst.
These results suggest that executive and attentional disorders are impaired in ANO10 mutation. In addition, epilepsy and porencephalic cysts were also described in our ARCA3 patients, the cyst thus expanding the clinical phenotype of ARCA3 patients due to ANO10 mutation.
最近有报道称ANO10突变与常染色体隐性遗传性3型小脑共济失调（ARCA3）有关。本研究的目的是描述2名携带ANO10复合杂合突变且患有进行性小脑共济失调、癫痫和认知障碍的同胞的表型。其中一人还被发现患有脑穿通畸形囊肿，另一人存在辅酶Q10缺乏症。
我们对2名携带ANO10复合杂合突变的同胞进行了神经学、神经心理学、肌电图、脑电图和MRI检查。
我们首次报告了2例ARCA3患者的神经心理学特征，表现为成人起病的执行功能和注意力综合征。两人均患有癫痫。其中一人患有脑穿通畸形囊肿。
这些结果表明，ANO10突变会损害执行功能和注意力障碍。此外，我们的ARCA3患者中还出现了癫痫和脑穿通畸形囊肿，该囊肿因此扩展了由ANO10突变导致的ARCA3患者的临床表型。
