Department of Biology and Genetics, Medical University of Gdańsk, Ul. Dębinki 1, 80-211 Gdańsk, Poland.
Department of Neurology, St. Adalbert Hospital, Copernicus, Al. Jana Pawła II 50, 80-462 Gdańsk, Poland; Neurological-Psychiatric Nursing Department, Medical University of Gdańsk, Ul. Dębinki 1, 80-211 Gdańsk, Poland.
Neurol Neurochir Pol. 2017 Nov-Dec;51(6):481-485. doi: 10.1016/j.pjnns.2017.08.003. Epub 2017 Aug 17.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias. One should be aware of ARSACS in cases of autosomally recessive inherited ataxias without common mutations.
常染色体隐性痉挛性共济失调型小脑性共济失调（ARCSACS）是一种罕见的遗传性共济失调，其特征为早发性小脑共济失调、周围感觉运动神经病和下肢痉挛。尽管 ARSACS 在世界范围内的报道越来越多，但我们首次报道了一个波兰家系，该家系进行了全面的临床和神经心理学评估，携带 SACS 基因的两个新突变。我们的研究结果表明，ARCSACS 的认知和行为特征存在变异性，这与其他遗传性共济失调一致。在无常见突变的常染色体隐性遗传性共济失调的情况下，应考虑 ARSACS 的可能。
