Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers.
Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers.
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葡萄糖脑苷脂酶（GBA）非显现载体的认知功能。
DOI：
10.3389/fneur.2021.635958
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发表时间：
2021
影响因子：
3.4
通讯作者：
Saunders-Pullman R
中科院分区：
文献类型：
--
作者：
Moran EE;Bressman SB;Ortega RA;Raymond D;Nichols WC;Palmese CA;Elango S;Swan M;Shanker V;Perera I;Wang C;Zimmerman ME;Saunders-Pullman R
葡萄糖脑苷脂酶（GBA）基因的突变和变异是帕金森病（PD）发展的最常见遗传风险因素之一。然而，突变率显著降低，并且对未诊断出PD的患者中携带单一突变的负担知之甚少。运动，认知，精神和嗅觉功能进行了评估，在30个杂合子GBA突变携带者没有PD（其中大多数有轻度GBA突变）和49个非携带者没有PD。研究的重点是在患有PD的GBA突变携带者中受影响的域，以及先前在没有PD的GBA突变携带者中显示异常的域。GBA突变携带者在控制年龄时，执行功能的Stroop干扰措施表现较差。在言语记忆、蒙特利尔认知评估（莫卡）、整体运动评分或REM睡眠行为障碍或抑郁症方面没有组间差异。虽然总嗅觉评分没有差异，但GBA突变携带者嗅觉减退的整体认知评分低于无嗅觉减退的患者。正如GBA突变的低突变率所预期的那样，这些发现表明，在大多数GBA突变携带者中可能不存在PD的预先表现的非运动或运动特征。然而，有证据表明，在一些未表现的杂合GBA突变携带者中，执行功能可能存在细微差异，并且与嗅觉相结合，这可能需要额外的审查，作为表现前和临床前GBA相关PD的潜在生物标志物。
Mutations and variants in the glucocerebrosidase (GBA) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden of carrying a single mutation among those without diagnosed PD. Motor, cognitive, psychiatric, and olfactory functioning were assessed in 30 heterozygous GBA mutation carriers without PD (the majority of whom had mild GBA mutations) and 49 non-carriers without PD. Study focus was on domains affected in GBA mutation carriers with PD, as well as those previously shown to be abnormal in GBA mutation carriers without PD. GBA mutation carriers showed poorer performance on the Stroop interference measure of executive functioning when controlling for age. There were no group differences in verbal memory, Montreal Cognitive Assessment (MoCA), overall motor score, or presence of REM sleep behavior disorder or depression. Although total olfaction scores did not differ, GBA mutation carriers with hyposmia had lower global cognition scores than those without hyposmia. As anticipated by the low penetrance of GBA mutations, these findings suggest that pre-manifest non-motor or motor features of PD may not present in most GBA mutation carriers. However, there is support that there may be a subtle difference in executive functioning among some non-manifesting heterozygous GBA mutation carriers, and, combined with olfaction, this may warrant additional scrutiny as a potential biomarker for pre-manifest and pre-clinical GBA related PD.
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DOI：
10.1002/mds.26359
发表时间：
2016-01
期刊：
Movement disorders : official journal of the Movement Disorder Society
影响因子：
--
作者：
Mata IF;Leverenz JB;Weintraub D;Trojanowski JQ;Chen-Plotkin A;Van Deerlin VM;Ritz B;Rausch R;Factor SA;Wood-Siverio C;Quinn JF;Chung KA;Peterson-Hiller AL;Goldman JG;Stebbins GT;Bernard B;Espay AJ;Revilla FJ;Devoto J;Rosenthal LS;Dawson TM;Albert MS;Tsuang D;Huston H;Yearout D;Hu SC;Cholerton BA;Montine TJ;Edwards KL;Zabetian CP
通讯作者：
Zabetian CP
影响因子：
8.6
作者：
Simuni, Tanya;Brumm, Michael C.;Tauscher, Johannes
通讯作者：
Tauscher, Johannes
影响因子：
9.9
作者：
Alcalay, R. N.;Caccappolo, E.;Marder, K.
通讯作者：
Marder, K.
影响因子：
29
作者：
Nalls, Michael A.;Duran, Raquel;Sidransky, Ellen
通讯作者：
Sidransky, Ellen
影响因子：
8.6
作者：
Kono, Satoshi;Ouchi, Yasuomi;Miyajima, Hiroaki
通讯作者：
Miyajima, Hiroaki