Department of Neurology, McGill University, Montreal General Hospital, Montreal, Canada.
Centre d'études avancées en médecine du sommeil, CIUSSS-NÎM-Hôpital du Sacré-Cœur de Montréal, Montreal, Canada; Department of Psychiatry, Université de Montréal, Montreal, QC, Canada.
Parkinsonism Relat Disord. 2019 Aug;65:230-233. doi: 10.1016/j.parkreldis.2019.04.016. Epub 2019 Apr 27.
Mutations in the glucocerebrosidase (GBA) gene are strongly associated with REM sleep behavior disorder (RBD). It is unclear whether GBA mutations might affect clinical phenotype or rate of phenoconversion to parkinsonism or dementia.
We sequenced GBA in polysomnographic-proven idiopathic RBD (iRBD) patients. The effect of GBA mutations on clinical neurodegenerative markers and phenoconversion rate was assessed.
Of 102 patients sequenced, 13 (13%) had GBA mutations and 89 did not. Aside from lower self-reported age of RBD onset in subjects with GBA mutations, no significant differences were observed in any clinical marker between patients with and without mutations. However, GBA mutations were associated with 3.2-fold higher phenoconversion rate from RBD to parkinsonism and/or dementia (95% CI = 1.4-7.3, p = 0.006).
Although GBA mutations do not appear to affect clinical neurodegenerative markers (and thus are not differentiable as an independent subtype of iRBD), they may accelerate the conversion of RBD to defined neurodegenerative synucleinopathy.
葡萄糖脑苷脂酶（GBA）基因突变与快速眼动睡眠行为障碍（RBD）密切相关。目前尚不清楚 GBA 突变是否会影响临床表型或向帕金森病或痴呆转化的速度。
我们对经多导睡眠图证实的特发性 RBD（iRBD）患者进行了 GBA 测序。评估 GBA 突变对临床神经退行性标志物和表型转化率的影响。
在 102 名测序患者中，有 13 名（13%）存在 GBA 突变，89 名没有突变。除了 GBA 突变患者的 RBD 发病年龄自评较低外，突变患者和无突变患者之间在任何临床标志物上均无显著差异。然而，GBA 突变与 RBD 向帕金森病和/或痴呆转化的表型转化率增加了 3.2 倍（95%CI=1.4-7.3，p=0.006）。
尽管 GBA 突变似乎不会影响临床神经退行性标志物（因此不能作为 iRBD 的独立亚型区分），但它们可能会加速 RBD 向特定的神经退行性突触核蛋白病的转化。
