Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
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DOI：
10.1002/mds.23046
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发表时间：
2010-07-30
影响因子：
8.6
通讯作者：
Bressman, Susan
中科院分区：
文献类型：
--
作者：
Saunders-Pullman, Rachel;Hagenah, Johann;Dhawan, Vijay;Stanley, Kaili;Pastores, Gregory;Sathe, Swati;Tagliati, Michele;Condefer, Kelly;Palmese, Christina;Brueggemann, Norbert;Klein, Christine;Roe, A. M.;Kornreich, Ruth;Ozelius, Laurie;Bressman, Susan
关键词：
与帕金森症有关的基因之一是葡萄糖脑苷脂酶（GBA），它会导致戈谢病（GD）。尽管越来越多的文献表明GD可能表现为帕金森综合征，但神经影像学、嗅觉和神经心理学测试尚未得到广泛报道。我们描述了经颅超声检查（TCS），18氟多巴（F多巴）和氟脱氧葡萄糖（FDG）PET，嗅觉测试，神经心理学测试和临床特征的纯合子和复合杂合子葡萄糖脑苷脂酶突变携带者通过筛选250德系犹太人帕金森病患者在三级保健中心治疗。我们确定了两名N370 S/R496 H复合杂合突变的个体和两名N370 S纯合突变的个体;一名个体在完成详细评估前死亡。TCS（n=3）显示黑质高回声性大于对照组（中位面积黑质最大回声性（aSN max）=0.28 cm 2 vs. 0.14 cm 2，p=0.005），但与IPD相似（aSN max = 0.31 cm 2）。FDG PET（n=2）显示豆状核代谢亢进，F-氟多巴PET（n=2）显示纹状体FDOPA摄取双侧减少。在两个测试的情况下，嗅觉明显受损，包括在青春期的嗅觉障碍发作之一。神经心理学特征（n=3）与帕金森病（PD）或弥漫性路易体病（DLB）一致。影像学、神经心理学和嗅觉标志物提示GD表型包括PD伴或不伴DLB、明显嗅觉丧失、TCS黑质强回声、FDOPA和FDG PET异常。
Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F-fluorodopa (F DOPA) and fluorodeoxyglucose (FDG) PET, olfaction testing, neuropsychological testing and clinical features in homozygous and compound heterozygous glucocerebrosidase mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n=3) demonstrated nigral hyperechogenicity that was greater than controls (median area maximal substantia nigra echogenicity (aSNmax) =0.28 cm2 vs. 0.14 cm2, p=0.005), but similar to IPD (aSNmax= 0.31 cm2). FDG PET (n=2) demonstrated hypermetabolism of the lentiform nuclei, and F-fluorodopa PET (n=2), bilateral reduction in striatal FDOPA uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n=3) were consistent with Parkinson’s disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and FDOPA and FDG PET abnormalities.
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影响因子：
2.9
作者：
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通讯作者：
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