Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes

被引：9

作者：

Di Battista, Maria Elena ^{[1
,2
]}

Pascale, Esterina ^{[3
]}

Purcaro, Carlo ^{[1
,2
]}

Passarelli, Francesca ^{[4
]}

Passarelli, Emanuela ^{[4
]}

Guglielmi, Renzo ^{[1
,2
]}

Vanacore, Nicola ^{[5
]}

Meco, Giuseppe ^{[1
,2
]}

机构：

[1] Univ Roma La Sapienza, Dept Neurol & Psychiat, Parkinsons Ctr, Rome, Italy

[2] Univ Roma La Sapienza, Res Ctr Social Dis CIMS, I-00185 Rome, Italy

[3] Univ Roma La Sapienza, Dept Med Surg Sci & Biotechnol, I-00185 Rome, Italy

[4] Univ Roma La Sapienza, Dept Mol Med, I-00185 Rome, Italy

[5] Ist Super Sanita, I-00161 Rome, Italy

来源：

JOURNAL OF NEURAL TRANSMISSION | 2014年 / 121卷 / 04期

关键词：

Parkinson's disease subtypes; MAPT haplotypes; SUSCEPTIBILITY; GENE;

D O I：

10.1007/s00702-013-1117-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The H1 haplotype of the MAPT gene influences the risk of PD and has been related to the development of PDD. We evaluated the influence of MAPT haplotypes on the expression of motor features in PD patients. We genotyped, for the MAPT haplotypes H1 and H2, a sample of 181 PD patients with distinct clinical subtypes: tremor dominant and non-tremor dominant (NTD). Our results indicate that the MAPT haplotypes contribute to the expression of motor features of PD. H1 homozygous PD patients are significantly more likely to present a NTD phenotype, a clinical subtype characterized by widespread pathological degeneration, than H2 carriers.

引用

页码：353 / 356

页数：4

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