意大利帕金森病患者中LRRK2 G2019S突变的频率和表型
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
作者信息
Marongiu Roberta, Ghezzi Daniele, Ialongo Tamara, Soleti Francesco, Elia Antonio, Cavone Stefania, Albanese Alberto, Altavista Maria Concetta, Barone Paolo, Brusa Livia, Cortelli Pietro, Petrozzi Lucia, Scaglione Cesa, Stanzione Paolo, Tinazzi Michele, Zeviani Massimo, Dallapiccola Bruno, Bentivoglio Anna Rita, Valente Enza Maria, Garavaglia Barbara
机构信息
IRCCS CSS, Mendel Institute, Rome.
出版信息
Mov Disord. 2006 Aug;21(8):1232-5. doi: 10.1002/mds.20890.
To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD.
为评估意大利LRRK2基因G2019S突变的频率，我们检测了1072例帕金森病（PD）先证者（822例散发性和250例家族性）：20例患者（1.9%）携带G2019S突变，其中11例（1.3%）为散发性，9例（4.3%）有家族史阳性。仅考虑常染色体显性遗传的先证者，G2019S频率升至5.2%。所有患者均表现出典型的发病可变的表型，并共享常见的祖先单倍型。突变频率从早发型PD的1.2%升至晚发型PD的4.0%。
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