A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13

Clinical Neurology and Neurosurgery
R WielaardJ Haan

Abstract

We describe a four-generation Dutch family suffering from cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Of twenty affected family members, ten are still alive. Age at onset of the strokes was between 29 and 52 years, with a mean of 41.8 years. This family has the typical clinical and radiological features of CADASIL (except for the occurrence of ischemic heart disease at a relatively young age in some subjects), and is linked to chromosome 19p13. This disease has so far been described in families from Finland, France, Germany, Italy, Japan, Spain and the United Kingdom, and there is a remarkable clinical and genetical homogeneity among all families reported, including this Dutch family.

References

May 7, 1977·Lancet·P Sourander, J Wälinder
Jun 25, 1977·Lancet·D L StevensB Brownell
Mar 1, 1992·Italian Journal of Neurological Sciences·F SalviC A Tassinari
Oct 1, 1991·Stroke; a Journal of Cerebral Circulation·E Tournier-LasserveM G Bousser
Aug 1, 1987·Annals of Neurology·M Natowicz, R I Kelley
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1987·European Neurology·V Sonninen, M L Savontaus
Mar 1, 1994·Stroke; a Journal of Cerebral Circulation·M G Bousser, E Tournier-Lasserve
Nov 1, 1994·Stroke; a Journal of Cerebral Circulation·M M RuchouxE Tournier-Lasserve
Aug 1, 1994·Clinical Neurology and Neurosurgery·J HaanM D Ferrari
Aug 1, 1994·Stroke; a Journal of Cerebral Circulation·J V Bowler, V Hachinski
Feb 1, 1994·Neuropathology and Applied Neurobiology·F GrayH V Vinters
Sep 1, 1993·Nature Genetics·A JoutelJ Weissenbach
Jan 1, 1993·Stroke; a Journal of Cerebral Circulation·M BaudrimontM G Bousser

❮ Previous
Next ❯

Citations

Apr 22, 1999·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·P Davous
Nov 11, 2010·Neuropathology and Applied Neurobiology·Y YamamotoR N Kalaria
Nov 1, 2005·Mutation Research·Youngho KimHan-Wook Yoo
Nov 18, 1998·Annals of Neurology·M DichgansT Gasser
Jun 4, 1999·Stroke; a Journal of Cerebral Circulation·D W DesmondJ P Mohr
Aug 11, 2012·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Patrizia FormichiAntonio Federico
Apr 30, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·H ChabriatM G Bousser

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.