Otsuka H, Harada M, Hieda M, Takahashi M, Miyoshi K, Miyazaki M, Kondoh I, Nishitani H
Department of Radiology, School of Medicine, Tokushima University, Japan.
No To Shinkei. 1996 Sep;48(9):818-23.
Dentato-rubro-pallido-luysian atrophy (DRP-LA) is a rare autosomal dominant neurodegenerative disorder. Recently the genetic abnormality has become clear. We encountered four patients with DRPLA (including a 14-year-old boy and his father) in whom the final diagnosis was made by DNA analysis. In addition to performing conventional MRI, we quantified brain metabolites by proton MR spectroscopy. We also compared the expanded repeat size of CAG trinucleotide in a gene on the short arm of chromosome 12 to the MR findings which consisted of the findings of clinical severity and age of onset. The method reported by Nagafuchi et al. was used to determine the size of the CAG repeat on the focus chromosome. Repeat size was closely correlated with age at onset and disease severity. The MR studies were performed with a Magnetum H-15SP (Siemens, 1.5 Tesla) equipped with a C-P type head coil. Axial T2-WIs (TR = 2000 ms, TE = 90 ms) and T1-WIs (TR = 200 ms, TE = 15 ms) were measured. Atrophy of the brainstem, the tegmentum, and the cerebellum, and periventricular hyperintensity could be seen. The sequence for 1H-MRS was PRESS, voxel size was 8 ml, and regions of interest were placed on right basal ganglia and right parietal white matter. After compensating the observed signals, we obtained metabolite concentrations by using compensated water intensity as an internal standard. Despite the absence of abnormalities of the basal ganglia on MRI, NAA concentrations differed from patient to patient and were low in severe clinical cases. We propose that the CAG repeat size of the focus chromosome and NAA concentration quantified by 1H-MRS are closely correlated with clinical severity and age of onset. In conclusion, DNA analysis may be useful in early diagnosis and 1H-MRS can detect metabolic abnormalities non-invasively even when no markedly abnormal findings can be detected with other clinical modalities.
齿状核-红核-苍白球-路易体萎缩症（DRP-LA）是一种罕见的常染色体显性神经退行性疾病。最近，其基因异常已变得明确。我们遇到了4例DRPLA患者（包括一名14岁男孩及其父亲），通过DNA分析做出了最终诊断。除了进行传统的MRI检查外，我们还通过质子磁共振波谱对脑代谢物进行了定量分析。我们还将12号染色体短臂上一个基因中CAG三核苷酸的扩增重复序列大小与包括临床严重程度和发病年龄等在内的MR表现进行了比较。采用长渊等人报道的方法来确定目标染色体上CAG重复序列的大小。重复序列大小与发病年龄和疾病严重程度密切相关。MR研究使用配备C-P型头部线圈的Magnetum H-15SP（西门子，1.5特斯拉）进行。测量了轴位T2加权像（TR = 2000毫秒，TE = 90毫秒）和T1加权像（TR = 200毫秒，TE = 15毫秒）。可见脑干、被盖和小脑萎缩以及脑室周围高信号。1H-MRS序列为PRESS，体素大小为8毫升，感兴趣区置于右侧基底节和右侧顶叶白质。在对观察到的信号进行校正后，我们以校正后的水强度作为内标获得代谢物浓度。尽管MRI上基底节无异常，但不同患者的NAA浓度不同，在临床严重病例中较低。我们认为目标染色体的CAG重复序列大小和通过1H-MRS定量的NAA浓度与临床严重程度和发病年龄密切相关。总之，DNA分析可能有助于早期诊断，并且即使在其他临床检查方法未发现明显异常时，1H-MRS也能无创地检测到代谢异常。
