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Published in: Journal of Neural Transmission 4/2014

01-04-2014 | Neurology and Preclinical Neurological Studies - Short communication

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

Authors: Maria Elena Di Battista, Esterina Pascale, Carlo Purcaro, Francesca Passarelli, Emanuela Passarelli, Renzo Guglielmi, Nicola Vanacore, Giuseppe Meco

Published in: Journal of Neural Transmission | Issue 4/2014

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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.
Literature
go back to reference Braak H, Del Tredici K, Rüb U, de Vos RA, Jansen Steur EN, Braak E (2003) Staging of brain pathology related to sporadic Parkinson’s disease. Neurobiol Aging 24(2):197–211PubMedCrossRef Braak H, Del Tredici K, Rüb U, de Vos RA, Jansen Steur EN, Braak E (2003) Staging of brain pathology related to sporadic Parkinson’s disease. Neurobiol Aging 24(2):197–211PubMedCrossRef
go back to reference Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF et al (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging 33(4):838e7–838e11CrossRef Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF et al (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging 33(4):838e7–838e11CrossRef
go back to reference Eggers C, Pedrosa DJ, Kahraman D, Maier F, Lewis CJ, Fink GR et al (2012) Parkinson subtypes progress differently in clinical course and imaging pattern. PLoS One 7(10):e46813PubMedCentralPubMedCrossRef Eggers C, Pedrosa DJ, Kahraman D, Maier F, Lewis CJ, Fink GR et al (2012) Parkinson subtypes progress differently in clinical course and imaging pattern. PLoS One 7(10):e46813PubMedCentralPubMedCrossRef
go back to reference Jellinger KA (2012) CSF biomarkers in different phenotypes of Parkinson disease. J Neural Transm 119(4):455–456PubMedCrossRef Jellinger KA (2012) CSF biomarkers in different phenotypes of Parkinson disease. J Neural Transm 119(4):455–456PubMedCrossRef
go back to reference Marras C, Lang A (2013) Parkinson’s disease subtypes: lost in translation? J Neurol Neurosurg Psychiatry 84(4):409–415PubMedCrossRef Marras C, Lang A (2013) Parkinson’s disease subtypes: lost in translation? J Neurol Neurosurg Psychiatry 84(4):409–415PubMedCrossRef
go back to reference Refenes N, Bolbrinker J, Tagaris G, Orlacchio A, Drakoulis N, Kreutz R (2009) Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with parkinson’s disease. BMC Neurology 9:26PubMedCentralPubMedCrossRef Refenes N, Bolbrinker J, Tagaris G, Orlacchio A, Drakoulis N, Kreutz R (2009) Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with parkinson’s disease. BMC Neurology 9:26PubMedCentralPubMedCrossRef
go back to reference Selikhova M, Williams DR, Kempster PA, Holton JL, Revesz T, Lees AJ (2009) A clinico-pathological study of subtypes in Parkinson’s disease. Brain 132(11):2947–2957PubMedCrossRef Selikhova M, Williams DR, Kempster PA, Holton JL, Revesz T, Lees AJ (2009) A clinico-pathological study of subtypes in Parkinson’s disease. Brain 132(11):2947–2957PubMedCrossRef
go back to reference van de Berg WD, Hepp DH, Dijkstra AA, Rozemuller JA, Berendse HW, Foncke E (2012) Patterns of α-synuclein pathology in incidental cases and clinical subtypes of Parkinson’s disease. Parkinsonism Relat Disord 18(Suppl 1):S28–S30PubMedCrossRef van de Berg WD, Hepp DH, Dijkstra AA, Rozemuller JA, Berendse HW, Foncke E (2012) Patterns of α-synuclein pathology in incidental cases and clinical subtypes of Parkinson’s disease. Parkinsonism Relat Disord 18(Suppl 1):S28–S30PubMedCrossRef
go back to reference Wade-Martins R (2012) Genetics: the MAPT locus-a genetic paradigm in disease susceptibility. Nat Rev Neurol 8(9):477–478PubMedCrossRef Wade-Martins R (2012) Genetics: the MAPT locus-a genetic paradigm in disease susceptibility. Nat Rev Neurol 8(9):477–478PubMedCrossRef
go back to reference Williams-Gray CH, Evans JR, Goris A, Foltynie T, Ban M, Robbins TW et al (2009) The distinct cognitive syndromes of Parkinson’s disease: 5 year follow-up of the CamPaIGN cohort. Brain 132(11):2958–2969PubMedCrossRef Williams-Gray CH, Evans JR, Goris A, Foltynie T, Ban M, Robbins TW et al (2009) The distinct cognitive syndromes of Parkinson’s disease: 5 year follow-up of the CamPaIGN cohort. Brain 132(11):2958–2969PubMedCrossRef
go back to reference Zhang J, Song Y, Chen H, Fan D (2005) The tau gene haplotype H1 confers a susceptibility to Parkinson’s disease. Eur Neurol 53(1):15–21PubMedCrossRef Zhang J, Song Y, Chen H, Fan D (2005) The tau gene haplotype H1 confers a susceptibility to Parkinson’s disease. Eur Neurol 53(1):15–21PubMedCrossRef
Metadata
Title
Clinical subtypes in Parkinson’s disease: the impact of MAPT haplotypes
Authors
Maria Elena Di Battista
Esterina Pascale
Carlo Purcaro
Francesca Passarelli
Emanuela Passarelli
Renzo Guglielmi
Nicola Vanacore
Giuseppe Meco
Publication date
01-04-2014
Publisher
Springer Vienna
Published in
Journal of Neural Transmission / Issue 4/2014
Print ISSN: 0300-9564
Electronic ISSN: 1435-1463
DOI
https://doi.org/10.1007/s00702-013-1117-7

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