Different clinical and neuroimaging features of Japanese dementia siblings with a new N-terminal mutation (Val225Ala) of APP gene

Yasuyuki Ohta, Nozomi Hishikawa, Ken Ikegami, Kota Sato, Yosuke Osakada, Mami Takemoto, Toru Yamashita, Yoshio Omote, Takeshi Ikeuchi, Koji Abe

Research output: Contribution to journalArticle

Abstract

Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene, developing a progressive dementia at 57 years and Aβ and tau pathologies in cerebrospinal fluid studies. However, the brother and sister showed different clinical and neuroimaging features, suggesting different Aβ pathologies for each sibling.

Original languageEnglish
JournalJournal of Clinical Neuroscience
DOIs
Publication statusAccepted/In press - Jan 1 2020

Fingerprint

Amyloid beta-Protein Precursor
Neuroimaging
Dementia
Siblings
Mutation
Pathology
Genes
Amyloid
Cerebrospinal Fluid
Alzheimer Disease

Keywords

  • Alzheimer's disease
  • Amyloid beta
  • Amyloid PET
  • APP
  • Tau

ASJC Scopus subject areas

  • Surgery
  • Neurology
  • Clinical Neurology
  • Physiology (medical)

Cite this

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abstract = "Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene, developing a progressive dementia at 57 years and Aβ and tau pathologies in cerebrospinal fluid studies. However, the brother and sister showed different clinical and neuroimaging features, suggesting different Aβ pathologies for each sibling.",
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T1 - Different clinical and neuroimaging features of Japanese dementia siblings with a new N-terminal mutation (Val225Ala) of APP gene

AU - Ohta, Yasuyuki

AU - Hishikawa, Nozomi

AU - Ikegami, Ken

AU - Sato, Kota

AU - Osakada, Yosuke

AU - Takemoto, Mami

AU - Yamashita, Toru

AU - Omote, Yoshio

AU - Ikeuchi, Takeshi

AU - Abe, Koji

PY - 2020/1/1

Y1 - 2020/1/1

N2 - Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene, developing a progressive dementia at 57 years and Aβ and tau pathologies in cerebrospinal fluid studies. However, the brother and sister showed different clinical and neuroimaging features, suggesting different Aβ pathologies for each sibling.

AB - Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene, developing a progressive dementia at 57 years and Aβ and tau pathologies in cerebrospinal fluid studies. However, the brother and sister showed different clinical and neuroimaging features, suggesting different Aβ pathologies for each sibling.

KW - Alzheimer's disease

KW - Amyloid beta

KW - Amyloid PET

KW - APP

KW - Tau

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