Burguêz Daniela, Oliveira Camila Maria de, Rockenbach Marcio Aloísio Bezerra Cavalcanti, Fussiger Helena, Vedolin Leonardo Modesti, Winckler Pablo Brea, Maestri Marcelo Krieger, Finkelsztejn Alessandro, Santorelli Filippo Maria, Jardim Laura Bannach, Saute Jonas Alex Morales
Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil.
Hospital de Clínicas de Porto Alegre, Laboratório de Identificação Genética, Porto Alegre RS, Brasil.
Arq Neuropsiquiatr. 2017 Jun;75(6):339-344. doi: 10.1590/0004-282X20170044.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.
魁北克-萨格奈常染色体隐性痉挛性共济失调（ARSACS）是一种早发性神经退行性疾病，由SACS基因突变引起，首次在加拿大魁北克报道。该疾病的典型特征是儿童期发病的共济失调、痉挛、神经病变和视网膜高度髓鞘化。然而，在魁北克以外出生的患者临床表现通常不典型。在本文中，作者描述了临床和神经放射学检查结果，这些结果使来自巴西南里奥格兰德州、具有日耳曼血统的两名女性表亲的ARSACS诊断受到怀疑。我们对ARSACS诊断的神经影像学、眼科和神经生理学线索进行了综述。所报道患者的早发性、缓慢进展的痉挛性共济失调表型与来自魁北克的ARSACS患者相似。SACS基因测序揭示了新的纯合子c.5150_5151insA移码突变，证实了ARSACS诊断。ARSACS是全球早发性共济失调/痉挛性共济失调的常见病因，在巴西的发病率未知。
