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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1113882
- author
- Gustafson, Lars
LU
; Brun, Arne
LU
; Hagnell, Olle
; Nilsson, Karin
; Stensmyr, Maria
; Öhlin, Ann-Kristin
LU
; Abrahamson, Magnus
LU
and Englund, Elisabet
LU
- organization
- publishing date
- 1998
- 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
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Division of Clinical Chemistry and Pharmacology (013250300), Department of Psychogeriatrics (013304000), Pathology, (Lund) (013030000)
- id
- 837bafea-f582-48fc-a250-d28f1a4d7089 (old id 1113882)
- date added to LUP
- 2016-04-01 16:35:41
- date last changed
- 2022-01-28 20:45:00
@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}},
doi = {{10.1007/s004390050688}},
volume = {{102}},
year = {{1998}},
}