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.
Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes / Maria Elena Di, Battista; Pascale, Esterina; Purcaro, Carlo; Passarelli, Francesca; Emanuela, Passarelli; Guglielmi, Renzo; Vanacore, Nicola; Meco, Giuseppe. - In: JOURNAL OF NEURAL TRANSMISSION. - ISSN 0300-9564. - 121:4(2014), pp. 353-356. [10.1007/s00702-013-1117-7]
Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes
PASCALE, ESTERINA;PURCARO, CARLO;PASSARELLI, Francesca;GUGLIELMI, Renzo;VANACORE, NICOLA;MECO, Giuseppe
2014
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
