Mendes Ferreira Vítor, Magriço Marta, Meira Bruna, Barbosa Raquel
Neurology Department. Hospital de Egas Moniz. Unidade Local de Saúde de Lisboa Ocidental. Lisbon. Portugal.
Neurology Department. Centre Hospitalier Universitaire Toulouse. Toulouse. Portugal.
Acta Med Port. 2024 Oct 11. doi: 10.20344/amp.22232.
Spinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of autosomal dominant ataxia in the European population. We present the case of a 62-year-old Portuguese patient who developed a slowly progressive gait impairment associated with wide-base ataxic gait, dysarthria, left upper limb dysmetria, and dysdiadochokinesia. This pure cerebellar phenotype had an episodic worsening induced by intense physical activity and alcohol intake. The patient had an older brother with a late-onset cerebellar ataxia of unknown cause. Genetic testing detected a heterozygotic intronic FGF14 repeat expansion with complete penetrance (> 360 repeats), confirming the diagnosis of SCA27B. To our knowledge, we present the first reported case of SCA27B in the Portuguese population.
脊髓小脑共济失调27B型（SCA27B）是一种最近发现的遗传性疾病，由成纤维细胞生长因子14（FGF14）基因中（GAA）≥250次重复扩增引起，多项研究已将其认定为欧洲人群常染色体显性共济失调的最常见病因之一。我们报告了一例62岁的葡萄牙患者，该患者出现了缓慢进展的步态障碍，伴有宽基底共济失调步态、构音障碍、左上肢辨距不良和轮替运动障碍。这种单纯的小脑表型在剧烈体力活动和饮酒后会出现发作性加重。该患者有一个哥哥，患有病因不明的迟发性小脑共济失调。基因检测发现了一个具有完全外显率（>360次重复）的杂合子内含子FGF14重复扩增，确诊为SCA27B。据我们所知，我们报告了葡萄牙人群中首例SCA27B病例。
