Early-onset familial lewy body dementia with extensive tauopathy: a clinical, genetic, and neuropathological study

J Neuropathol Exp Neurol. 2009 Jan;68(1):73-82. doi: 10.1097/NEN.0b013e3181927577.

Abstract

We describe a Spanish family in which 3 of 4 siblings had dementia with Lewy bodies, 2 of them starting at age 26 years and the other at 29 years. The father has recently been diagnosed with Lewy body disease, with onset at 77 years. Neuropathological examination of the brain of the index patient disclosed unusual features characterized by diffuse Lewy body disease and generalized neurofibrillary tangle pathology but with no amyloid deposits in any region. Moreover, Lewy body pathology colocalized with neurofibrillary tangles in most affected neurons. Mutation screening that included all coding exons of presenilin 1 (PSEN1), presenilin 2 (PSEN2), alpha-synuclein (SNCA), beta-synuclein (SNCB), microtubule-associated protein tau (MAPT), leucine-rich repeat kinase 2 (LRRK2), glucocerebrosidase (GBA), and exons 16 and 17 of the amyloid precursor protein (APP) genes did not identify any mutation. Genome-wide single nucleotide polymorphism was performed in 4 family members and ruled out any pathogenic duplication or deletion in the entire genome. In summary, we report a unique family with pathologically confirmed early-onset dementia with Lewy bodies with widespread tau and alpha-synuclein deposition. The absence of mutations in genes known to cause Lewy body disease suggests that a novel locus or loci are implicated in this neurodegenerative disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged, 80 and over
  • Brain / metabolism
  • Brain / pathology*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Family Health*
  • Female
  • Humans
  • Lewy Body Disease / complications
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Neurofibrillary Tangles* / genetics
  • Neurofibrillary Tangles* / metabolism
  • Neurofibrillary Tangles* / pathology
  • Presenilins / genetics
  • Presenilins / metabolism
  • Tauopathies / complications
  • Tauopathies / genetics*
  • Tauopathies / pathology*
  • alpha-Synuclein / metabolism
  • tau Proteins / genetics
  • tau Proteins / metabolism

Substances

  • DNA-Binding Proteins
  • MAPT protein, human
  • Presenilins
  • alpha-Synuclein
  • tau Proteins