Mata I F, Ross O A, Kachergus J, Huerta C, Ribacoba R, Moris G, Blazquez M, Guisasola L M, Salvador C, Martinez C, Farrer M, Alvarez V
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Eur J Neurol. 2006 Apr;13(4):391-4. doi: 10.1111/j.1468-1331.2006.01256.x.
Pathogenic mutations in the leucine-rich repeat kinase 2 gene (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset parkinsonism. The LRRK2 6055G > A (G2019S) mutation is the most common reported to date, and has been observed in a number of different European populations. So far, only the LRRK2 4321C > G (R1441G) mutation has been identified in the Spanish population. Herein we have assessed the frequency of G2019S in a referral-based series of 225 patients with Parkinson's disease (PD) from the region of Asturias, Northern Spain. The mutant allele was identified in five (2.7%) of the sporadic late-onset patients and was not present in control subjects. All carriers displayed genetic profiles consistent with the same haplotype, as previously reported for Lrrk2 G2019S-positive subjects. None of these patients presented with a family history of parkinsonism at the time of diagnosis. Thus, approximately 5% of sporadic patients with PD from the North of Spain have either Lrrk2 G2019S or R1441G substitutions.
富含亮氨酸重复激酶2基因（LRRK2；PARK8）中的致病性突变与常染色体显性晚发性帕金森症有关。LRRK2 6055G>A（G2019S）突变是迄今为止报道的最常见突变，在许多不同的欧洲人群中都有发现。到目前为止，在西班牙人群中仅发现了LRRK2 4321C>G（R1441G）突变。在此，我们评估了西班牙北部阿斯图里亚斯地区225例以转诊为基础的帕金森病（PD）患者中G2019S的频率。在5例（2.7%）散发性晚发性患者中鉴定出突变等位基因，而对照受试者中未发现该突变等位基因。所有携带者的基因谱均与相同单倍型一致，这与之前报道的Lrrk2 G2019S阳性受试者情况相同。这些患者在诊断时均无帕金森症家族史。因此，来自西班牙北部约5%的散发性PD患者存在Lrrk2 G2019S或R1441G替代突变。
