MAPT H1 haplotype is associated with enhanced α-synuclein deposition in dementia with Lewy bodies

Martí Colom-Cadena, Ellen Gelpi, María J. Martí, Sara Charif, Oriol Dols-Icardo, Rafael Blesa, Jordi Clarimón, Alberto Lleó

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38 Citations (Scopus)


The microtubule-associated protein tau (MAPT) H1 haplotype has been identified as a genetic risk factor for synucleinopathies. However, whether it modulates tau or α-synuclein pathology remains unknown. Our aim was to investigate the relationship between MAPT haplotypes and pathologic aggregates of tau and α-synuclein in pathologically confirmed cases of dementia with Lewy bodies (DLB). Twenty-two cases fulfilling clinical and neuropathological criteria for DLB were included. Clinical and neuropathological data were collected, and APOE and MAPT genotypes were determined. Tau and α-synuclein pathology was assessed semiquantitatively in 17 brain areas and total scores were calculated. DLB H1/H1 (n = 12) and H2 carriers (n = 10) did not differ in demographics, clinical variables, concomitant Alzheimer's pathology, or APOE genotype. Total α-synuclein scores were significantly increased in the H1/H1 group (p = 0.011), largely due to an increase in brainstem regions. This difference was driven by an increase in Lewy bodies and diffuse and punctuate cytoplasmatic α-synuclein aggregates (p = 0.007 and p = 0.025 respectively). These findings provide a mechanistic link for the genetic association between MAPT haplotypes and synucleinopathies. © 2013 Elsevier Inc.
Original languageEnglish
Pages (from-to)936-942
JournalNeurobiology of Aging
Issue number3
Publication statusPublished - 1 Mar 2013


  • α-synuclein
  • Alzheimer's disease
  • Dementia with Lewy bodies
  • MAPT haplotype
  • Parkinson's disease dementia
  • Tau


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