The goal of this study was to characterize a Swedish family with members affected by spinocerebellar ataxia 27 (SCA27), a rare autosomal dominant disease caused by mutations in fibroblast growth factor 14 (FGF14 ). Despite normal structural neuroimaging, psychiatric manifestations and intellectual disability are part of the SCA27 phenotype raising the need for functional neuroimaging. Here, we used clinical assessments, structural and functional neuroimaging to characterize these new SCA27 patients. Since one patient presents with a psychotic disorder, an exploratory study of markers of schizophrenia associated with GABAergic neurotransmission was performed in fgf14 ^−/− mice, a preclinical model that replicates motor and learning deficits of SCA27.

中文翻译：

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脊髓小脑性共济失调 27 中更广泛的表型特征和广泛的脑代谢减退。

本研究的目的是描述一个瑞典家庭的特征，该家庭的成员受脊髓小脑性共济失调 27 (SCA27) 影响，这是一种罕见的常染色体显性遗传病，由成纤维细胞生长因子 14 (FGF14) 突变引起。尽管结构神经影像学正常，但精神表现和智力障碍是 SCA27 表型的一部分，提高了对功能性神经影像学的需求。在这里，我们使用临床评估、结构和功能神经影像学来表征这些新的 SCA27 患者。由于一名患者患有精神病，因此在fgf14 ^-/-小鼠（一种复制 SCA27 的运动和学习缺陷的临床前模型）中进行了与 GABA 能神经传递相关的精神分裂症标志物的探索性研究。