Literature DB >> 24253235

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

Maria Elena Di Battista1, Esterina Pascale, Carlo Purcaro, Francesca Passarelli, Emanuela Passarelli, Renzo Guglielmi, Nicola Vanacore, Giuseppe Meco.   

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.

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Year:  2013        PMID： 24253235     DOI： 10.1007/s00702-013-1117-7

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN： 0300-9564            Impact factor:   3.575


  12 in total

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Review 2.  Tau and MAPT genetics in tauopathies and synucleinopathies.

Authors:  Etienne Leveille; Owen A Ross; Ziv Gan-Or
Journal:  Parkinsonism Relat Disord       Date:  2021-09-14       Impact factor: 4.402

3.  The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease.

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4.  Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes.

Authors:  Esterina Pascale; Maria Elena Di Battista; Alfonso Rubino; Carlo Purcaro; Marcella Valente; Francesco Fattapposta; Giampiero Ferraguti; Giuseppe Meco
Journal:  Front Cell Neurosci       Date:  2016-04-11       Impact factor: 5.505

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  5 in total

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