Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy.

Journal of Neurology
D T WinklerM Tolnay

Abstract

Several hereditary conditions affecting cerebral, retinal and systemic microvessels have recently been described. They include CADASIL, CRV, and HERNS. We here report on a variant form of a hereditary systemic angiopathy (HSA) affecting two generations of a Caucasian family. Clinical symptoms of HSA appear in the mid-forties and are characterized by visual impairment, migraine-like headache, skin rash, epileptic seizures, progressive motor paresis and cognitive decline. Late symptoms include hepatic and renal failure. Retinal capillary microaneurysms and arteriolar tortuosity are associated with marked optic disc atrophy. Radiological hallmarks consist of multiple cerebral calcifications and tumor-like subcortical white matter lesions. Brain, peripheral nerve, muscle, kidney and colon biopsies have revealed a multi organ small vessel involvement with partly altered endothelium, perivascular inflammation and thrombotic microangiopathy. No curative therapeutic options are known for hereditary cerebral vasculopathies. The use of cyclophosphamide, azathioprine and methotrexate was of no benefit in our cases of HSA. Early diagnosis of hereditary systemic angiopathies is important in order to prevent patients from repetitive invasive...Continue Reading

References

Mar 1, 1979·Neurology·J O SusacJ B Selhorst
Oct 1, 1989·American Journal of Medical Genetics·D H GutmannR C Sergott
May 1, 1988·Ophthalmology·M G GrandK Rice
Sep 1, 1993·Nature Genetics·A JoutelJ Weissenbach
Feb 18, 1998·Muscle & Nerve·M R MagistrisC R Bader
May 10, 2000·Neurology·I NiedermayerW Reiche
May 29, 2000·American Journal of Human Genetics·Y J CrowC G Woods
Dec 1, 2000·Klinische Monatsblätter für Augenheilkunde·J M SchmidbauerK W Ruprecht
Aug 23, 2002·The New England Journal of Medicine·Joel L Moake
Nov 11, 2003·American Journal of Medical Genetics. Part a·Jens T Siveke, Holger Schmid
Apr 14, 2004·Neurology·L M Nagae-PoetscherS Naidu
Jun 30, 2006·Journal of Neurology·Saif S M Razvi, Ian Bone

❮ Previous
Next ❯

Citations

Feb 6, 2010·Proceedings of the National Academy of Sciences of the United States of America·Roopa BhatLawrence Steinman
Jun 12, 2012·La Revue de médecine interne·A NéelM Hamidou
Nov 11, 2010·Neuropathology and Applied Neurobiology·Y YamamotoR N Kalaria
Oct 18, 2014·Brain Pathology·Grant R KolarHarry V Vinters
Dec 23, 2015·Annals of Neurology·Ivana VodopivecJohn H Stone
Sep 13, 2014·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Jacopo C DiFrancescoCarlo Ferrarese
Dec 17, 2014·Neurogenetics·A M PersicoV Guidetti
Sep 9, 2016·Brain : a Journal of Neurology·Anine H StamMichel D Ferrari
Jan 13, 2018·CEN Case Reports·Yutaka TsubataIchiei Narita
Nov 9, 2017·Stroke; a Journal of Cerebral Circulation·Nadine PelzerGisela M Terwindt
Aug 8, 2013·Headache·Stephen D Silberstein, David W Dodick
Mar 7, 2017·BMC Medicine·M Arfan IkramHieab H H Adams
Sep 12, 2015·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·S V Kopishinskaya, A V Gustov
Sep 10, 2021·European Journal of Ophthalmology·Che-Yuan KuoShih-Jen Chen

❮ 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.