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A 50-year perspective of a family with chromosome 14-linked Alzheimer’s disease

Gustafson, Lars LU ; Brun, Arne LU ; Hagnell, Olle; Nilsson, Karin; Stensmyr, Maria; Öhlin, Ann-Kristin LU ; Abrahamson, Magnus LU and Englund, Elisabet LU (1998) In Human Genetics 102(3). p.253-257
Abstract
A Swedish family with two generations suffering from presenile dementia with an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease was inherited through a dominant gene is strongly supported by the follow-up 50years later of three additional generations and molecular genetic findings of a novel presenilin-1 gene mutation in the family. The pedigree contains six cases with well-documented dementia in four consecutive generations. The Alzheimer encephalopathy was unusually severe in the three cases studied post-mortem, with a pronounced involvement of the central grey structures, such as the claustrum, the nuclei around the third ventricle, the central thalamic nuclei and the brain stem.... (More)
A Swedish family with two generations suffering from presenile dementia with an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease was inherited through a dominant gene is strongly supported by the follow-up 50years later of three additional generations and molecular genetic findings of a novel presenilin-1 gene mutation in the family. The pedigree contains six cases with well-documented dementia in four consecutive generations. The Alzheimer encephalopathy was unusually severe in the three cases studied post-mortem, with a pronounced involvement of the central grey structures, such as the claustrum, the nuclei around the third ventricle, the central thalamic nuclei and the brain stem. There were no vascular lesions and little amyloid angiopathy. All six affected cases showed the typical temporoparietal symptom pattern and other core symptoms of Alzheimer’s disease, such as logoclonia, myoclonic twitchings and major motor seizures. Other predominant features were psychomotor slowness, increased muscular tension, a stiff stooped gait and a rapid loss of weight. The symptom pattern is convincingly explained by the consistent and severe involvement of cortical and central grey structures and is probably linked to the presenilin-1 gene mutation. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
102
issue
3
pages
253 - 257
publisher
Springer
external identifiers
  • scopus:0031954042
ISSN
1432-1203
DOI
10.1007/s004390050688
language
English
LU publication?
yes
id
837bafea-f582-48fc-a250-d28f1a4d7089 (old id 1113882)
date added to LUP
2008-07-16 13:03:11
date last changed
2017-02-19 04:14:14
@article{837bafea-f582-48fc-a250-d28f1a4d7089,
  abstract     = {A Swedish family with two generations suffering from presenile dementia with an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease was inherited through a dominant gene is strongly supported by the follow-up 50years later of three additional generations and molecular genetic findings of a novel presenilin-1 gene mutation in the family. The pedigree contains six cases with well-documented dementia in four consecutive generations. The Alzheimer encephalopathy was unusually severe in the three cases studied post-mortem, with a pronounced involvement of the central grey structures, such as the claustrum, the nuclei around the third ventricle, the central thalamic nuclei and the brain stem. There were no vascular lesions and little amyloid angiopathy. All six affected cases showed the typical temporoparietal symptom pattern and other core symptoms of Alzheimer’s disease, such as logoclonia, myoclonic twitchings and major motor seizures. Other predominant features were psychomotor slowness, increased muscular tension, a stiff stooped gait and a rapid loss of weight. The symptom pattern is convincingly explained by the consistent and severe involvement of cortical and central grey structures and is probably linked to the presenilin-1 gene mutation.},
  author       = {Gustafson, Lars and Brun, Arne and Hagnell, Olle and Nilsson, Karin and Stensmyr, Maria and Öhlin, Ann-Kristin and Abrahamson, Magnus and Englund, Elisabet},
  issn         = {1432-1203},
  language     = {eng},
  number       = {3},
  pages        = {253--257},
  publisher    = {Springer},
  series       = {Human Genetics},
  title        = {A 50-year perspective of a family with chromosome 14-linked Alzheimer’s disease},
  url          = {http://dx.doi.org/10.1007/s004390050688},
  volume       = {102},
  year         = {1998},
}