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首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series
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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

机译：上颌和脑桥MRI异常是Charlevoix-Saguenay隐性痉挛性共济失调的特征。对意大利系列的全面研究

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Background and purpose: The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. The disease, first described in Canadian families from Québec, is characterized by cerebellar ataxia, pyramidal tract involvement and peripheral neuropathy. Methods: Analysis of SACS gene allowed the identification of 14 patients with ARSACS from 13 unrelated Italian families. Clinical phenotype, gene mutations and magnetic resonance imaging (MRI) findings were analysed. Results: We found 16 novel SACS gene mutations, including a large in-frame deletion. The age at onset was in infancy, but one patient presented the first symptoms at age 32. Progression of the disease was variable, and increased muscle tone was mostly recognized in later stages. Structural MRI showed atrophy of the superior cerebellar vermis, a bulky pons exhibiting T2-hypointense stripes, identified as the corticospinal tract (CST), thinning of the corpus callosum and a rim of T2-hyperintensity around the thalami in 100% of cases. The presence of iron or other paramagnetic substances was excluded. Diffusion tensor imaging (DTI) revealed grossly over-represented transverse pontine fibres (TPF), which prevented reconstruction of the CST at this level (100% of cases). In all patients, significant microstructural alterations were found in the supratentorial white matter of forceps, cingulum and superior longitudinal fasciculus. Conclusions: Our findings further enlarge the genetic spectrum of SACS mutations and widen the study of clinical phenotype. MRI characteristics indicate that pontine changes and supratentorial abnormalities are diagnostic. The over-representation of TPF on DTI suggests a developmental component in the pathogenesis of the disease.
机译：背景与目的：夏洛瓦-萨格奈（常春藤常染色体隐性痉挛性共济失调（ARSACS）是由SACS基因突变引起的早发性神经退行性疾病。该病首先在魁北克的加拿大家庭中描述，其特征是小脑性共济失调，锥体束受累和周围神经病变。方法：通过分析SACS基因，可以鉴定来自13个意大利无关家庭的14例ARSACS患者。分析临床表型，基因突变和磁共振成像（MRI）的发现。结果：我们发现了16个新的SACS基因突变，包括大的框内缺失。发病年龄处于婴儿期，但一名患者在32岁时出现了最初的症状。疾病的进展是可变的，并且在以后的阶段中大多数人都可以感觉到肌肉张力的增加。结构MRI显示100％的病例中小脑上mis骨萎缩，笨拙的pons呈T2横纹，被确认为皮质脊髓束（CST），call体变薄以及在丘脑周围T2边缘高。排除了铁或其他顺磁性物质的存在。弥散张量成像（DTI）显示横断桥总纤维（TPF）严重超标，这阻止了CST在此水平的重建（100％的病例）。在所有患者中，在镊子，扣带和上纵筋膜的幕上白质中均发现明显的微结构改变。结论：我们的发现进一步扩大了SACS突变的遗传谱，并拓宽了临床表型的研究范围。 MRI特征表明脑桥改变和幕上异常可诊断。 TPF在DTI上的过多代表表明该病发病机理中的一个发展成分。

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