Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families

N J  Thomas; C M  Morris; F  Scaravilli; J  Johansson; M  Rossor; R  De Lange; D  St Clair; J  Nicoll; C  Blank; A  Coulthard; K  Bushby; P G  Ince; D  Burn; R N  Kalaria

doi:10.1111/j.1749-6632.2000.tb06379.x

Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families

N J Thomas
, C M Morris
, F Scaravilli
, J Johansson
, M Rossor
, R De Lange
, D St Clair
, J Nicoll
, C Blank
, A Coulthard
, K Bushby
, P G Ince
, D Burn
, R N Kalaria^* (Corresponding Author)

^*Corresponding author for this work

Applied Medicine

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Abstract

The most common form of familial vascular dementia is considered to be CADASIL or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, which is now also increasingly manifest in the United Kingdom, CADASIL has been previously dubbed as a familial form of Binswanger disease. However, unlike in Binswanger disease CADASIL does not involve hypertension or other risk factors associated with cardiovascular disease. CADASIL appears to be essentially a disorder of the arteries that is linked to single missense mutations in the NOTCH 3 gene locus on chromosome 19, The pathogenesis of the disorder or the genetic mechanism leading to brain infarcts and dementia is not known, The elucidation of the microvascular pathology evident in CADASIL, may be an interesting way to delineate effects of defective genes on brain cells from systemic vascular influences.

Original language	English
Pages (from-to)	293-298
Number of pages	6
Journal	Annals of the New York Academy of Sciences
Volume	903
Issue number	1
DOIs	https://doi.org/10.1111/j.1749-6632.2000.tb06379.x
Publication status	Published - Apr 2000

Funding

The work was supported by a Zenith Award from the National Alzheimer's Association, Chicago, USA, and grants from the NINDS (NIH) and UK MRC.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

AUTOSOMAL-DOMINANT ARTERIOPATHY
SUBCORTICAL INFARCTS
LEUKOENCEPHALOPATHY CADASIL
ALZHEIMERS-DISEASE
MRI LESIONS
BRAIN
SPECTRUM
VESSELS
STROKE

Access to Document

10.1111/j.1749-6632.2000.tb06379.xLicence: Unspecified

Cite this

Thomas, N. J., Morris, C. M., Scaravilli, F., Johansson, J., Rossor, M., De Lange, R., St Clair, D., Nicoll, J., Blank, C., Coulthard, A., Bushby, K., Ince, P. G., Burn, D., & Kalaria, R. N. (2000). Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families. Annals of the New York Academy of Sciences, 903(1), 293-298. https://doi.org/10.1111/j.1749-6632.2000.tb06379.x

Thomas, NJ, Morris, CM, Scaravilli, F, Johansson, J, Rossor, M, De Lange, R, St Clair, D, Nicoll, J, Blank, C, Coulthard, A, Bushby, K, Ince, PG, Burn, D & Kalaria, RN 2000, 'Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families', Annals of the New York Academy of Sciences, vol. 903, no. 1, pp. 293-298. https://doi.org/10.1111/j.1749-6632.2000.tb06379.x

@article{58f8e70add844edb88196b96b7a8fbf8,

title = "Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families",

abstract = "The most common form of familial vascular dementia is considered to be CADASIL or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, which is now also increasingly manifest in the United Kingdom, CADASIL has been previously dubbed as a familial form of Binswanger disease. However, unlike in Binswanger disease CADASIL does not involve hypertension or other risk factors associated with cardiovascular disease. CADASIL appears to be essentially a disorder of the arteries that is linked to single missense mutations in the NOTCH 3 gene locus on chromosome 19, The pathogenesis of the disorder or the genetic mechanism leading to brain infarcts and dementia is not known, The elucidation of the microvascular pathology evident in CADASIL, may be an interesting way to delineate effects of defective genes on brain cells from systemic vascular influences.",

keywords = "AUTOSOMAL-DOMINANT ARTERIOPATHY, SUBCORTICAL INFARCTS, LEUKOENCEPHALOPATHY CADASIL, ALZHEIMERS-DISEASE, MRI LESIONS, BRAIN, SPECTRUM, VESSELS, STROKE",

author = "Thomas, \{N J\} and Morris, \{C M\} and F Scaravilli and J Johansson and M Rossor and \{De Lange\}, R and \{St Clair\}, D and J Nicoll and C Blank and A Coulthard and K Bushby and Ince, \{P G\} and D Burn and Kalaria, \{R N\}",

year = "2000",

month = apr,

doi = "10.1111/j.1749-6632.2000.tb06379.x",

language = "English",

volume = "903",

pages = "293--298",

journal = "Annals of the New York Academy of Sciences",

issn = "0077-8923",

publisher = "John Wiley and Sons Inc.",

number = "1",

}

TY - JOUR

T1 - Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families

AU - Thomas, N J

AU - Morris, C M

AU - Scaravilli, F

AU - Johansson, J

AU - Rossor, M

AU - De Lange, R

AU - St Clair, D

AU - Nicoll, J

AU - Blank, C

AU - Coulthard, A

AU - Bushby, K

AU - Ince, P G

AU - Burn, D

AU - Kalaria, R N

PY - 2000/4

Y1 - 2000/4

N2 - The most common form of familial vascular dementia is considered to be CADASIL or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, which is now also increasingly manifest in the United Kingdom, CADASIL has been previously dubbed as a familial form of Binswanger disease. However, unlike in Binswanger disease CADASIL does not involve hypertension or other risk factors associated with cardiovascular disease. CADASIL appears to be essentially a disorder of the arteries that is linked to single missense mutations in the NOTCH 3 gene locus on chromosome 19, The pathogenesis of the disorder or the genetic mechanism leading to brain infarcts and dementia is not known, The elucidation of the microvascular pathology evident in CADASIL, may be an interesting way to delineate effects of defective genes on brain cells from systemic vascular influences.

AB - The most common form of familial vascular dementia is considered to be CADASIL or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, which is now also increasingly manifest in the United Kingdom, CADASIL has been previously dubbed as a familial form of Binswanger disease. However, unlike in Binswanger disease CADASIL does not involve hypertension or other risk factors associated with cardiovascular disease. CADASIL appears to be essentially a disorder of the arteries that is linked to single missense mutations in the NOTCH 3 gene locus on chromosome 19, The pathogenesis of the disorder or the genetic mechanism leading to brain infarcts and dementia is not known, The elucidation of the microvascular pathology evident in CADASIL, may be an interesting way to delineate effects of defective genes on brain cells from systemic vascular influences.

KW - AUTOSOMAL-DOMINANT ARTERIOPATHY

KW - SUBCORTICAL INFARCTS

KW - LEUKOENCEPHALOPATHY CADASIL

KW - ALZHEIMERS-DISEASE

KW - MRI LESIONS

KW - BRAIN

KW - SPECTRUM

KW - VESSELS

KW - STROKE

U2 - 10.1111/j.1749-6632.2000.tb06379.x

DO - 10.1111/j.1749-6632.2000.tb06379.x

M3 - Article

SN - 0077-8923

VL - 903

SP - 293

EP - 298

JO - Annals of the New York Academy of Sciences

JF - Annals of the New York Academy of Sciences

IS - 1

ER -

Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families

Abstract

Funding

UN SDGs

Keywords

Access to Document

Fingerprint

Cite this