Early-onset dementia with Lewy bodies

Masaki Takao, Bernardino Ghetti, Hirotaka Yoshida, Pedro Piccardo, Yolanda Narain, Jill R. Murrell, Ruben Vidal, Bradley S. Glazier, Ross Jakes, Miho Tsutsui, Maria Grazia Spillantini, R. Anthony Crowther, Michel Goedert, Atsuo Koto

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

The clinical and neuropathological characteristics of an atypical form of dementia with Lewy bodies (DLB) are described. The proband experienced difficulties in her school performance at 13 years of age. Neurological examination revealed cognitive dysfunction, dysarthria, parkinsonism and myoclonus. By age 14 years, the symptoms had worsened markedly and the proband died at age 15 years. On neuropathological examination, the brain was severely atrophic. Numerous intracytoplasmic and intra-neuritic Lewy bodies, as well as Lewy neurites, were present throughout the cerebral cortex and subcortical nuclei; vacuolar changes were seen in the upper layers of the neocortex and severe neuronal loss and gliosis were evident in the cerebral cortex and substantia nigra. Lewy bodies and Lewy neurites were strongly immunoreactive for α-synuclein and ubiquitin. Lewy bodies were composed of filamentous and granular material and isolated filaments were decorated by α-synuclein antibodies. Immunohistochemistry for tau or β-amyloid yielded negative results. The etiology of this atypical form of DLB is unknown, since there was no family history and since sequencing of the exonic regions of α-Synuclein, β-Synuclein, Synphilin-1, Parkin, Ubiquitin C-terminal hydrolase L1 and Neurofilament-M failed to reveal a pathogenic mutation. This study provides further evidence of the clinical and pathological heterogeneity of DLB.

Original languageEnglish
Pages (from-to)137-147
Number of pages11
JournalBrain Pathology
Volume14
Issue number2
StatePublished - Apr 2004

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Synucleins
Lewy Body Disease
Lewy Bodies
Neurites
Cerebral Cortex
Ubiquitin Thiolesterase
Dysarthria
Myoclonus
Gliosis
Intermediate Filaments
Neocortex
Neurologic Examination
Parkinsonian Disorders
Substantia Nigra
Ubiquitin
Amyloid
Immunohistochemistry
Mutation
Antibodies
Brain

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine

Cite this

Takao, M., Ghetti, B., Yoshida, H., Piccardo, P., Narain, Y., Murrell, J. R., ... Koto, A. (2004). Early-onset dementia with Lewy bodies. Brain Pathology, 14(2), 137-147.

Early-onset dementia with Lewy bodies. / Takao, Masaki; Ghetti, Bernardino; Yoshida, Hirotaka; Piccardo, Pedro; Narain, Yolanda; Murrell, Jill R.; Vidal, Ruben; Glazier, Bradley S.; Jakes, Ross; Tsutsui, Miho; Spillantini, Maria Grazia; Crowther, R. Anthony; Goedert, Michel; Koto, Atsuo.

In: Brain Pathology, Vol. 14, No. 2, 04.2004, p. 137-147.

Research output: Contribution to journalArticle

Takao, M, Ghetti, B, Yoshida, H, Piccardo, P, Narain, Y, Murrell, JR, Vidal, R, Glazier, BS, Jakes, R, Tsutsui, M, Spillantini, MG, Crowther, RA, Goedert, M & Koto, A 2004, 'Early-onset dementia with Lewy bodies', Brain Pathology, vol. 14, no. 2, pp. 137-147.
Takao M, Ghetti B, Yoshida H, Piccardo P, Narain Y, Murrell JR et al. Early-onset dementia with Lewy bodies. Brain Pathology. 2004 Apr;14(2):137-147.
Takao, Masaki ; Ghetti, Bernardino ; Yoshida, Hirotaka ; Piccardo, Pedro ; Narain, Yolanda ; Murrell, Jill R. ; Vidal, Ruben ; Glazier, Bradley S. ; Jakes, Ross ; Tsutsui, Miho ; Spillantini, Maria Grazia ; Crowther, R. Anthony ; Goedert, Michel ; Koto, Atsuo. / Early-onset dementia with Lewy bodies. In: Brain Pathology. 2004 ; Vol. 14, No. 2. pp. 137-147.
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