title: Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes.
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.
authors.affiliation: Department of Neurology and Psychiatry (Parkinson's Centre) and Research Centre of Social Diseases (CIMS), Sapienza University of Rome, V.le dell'Università 30, Rome, Italy.
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Di Battista
authors.forename: Esterina
authors.initials: E
authors.lastname: Pascale
authors.forename: Carlo
authors.initials: C
authors.lastname: Purcaro
authors.forename: Francesca
authors.initials: F
authors.lastname: Passarelli
authors.forename: Emanuela
authors.initials: E
authors.lastname: Passarelli
authors.forename: Renzo
authors.initials: R
authors.lastname: Guglielmi
authors.forename: Nicola
authors.initials: N
authors.lastname: Vanacore
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Meco
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000145:classification* / Q000150:complications / Q000235:genetics*; D012044:Regression Analysis; D012720:Severity of Illness Index; D014202:Tremor / Q000209:etiology; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins