Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 1/2018

01-03-2018 | Letter to the Editor

An unusual phenocopy of the HANAC syndrome without genetic involvement of COL4A1/COL4A2

Authors: Anastasia Bougea, Elisabeth Kapaki, Vassilis Constantinides, Christos Yapijakis, George P. Paraskevas

Published in: Acta Neurologica Belgica | Issue 1/2018

Login to get access

Excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoancepahlopathy (CADASIL), due to NOTCH3 mutations, is the most common cause of inherited subcortical small vessel disease (SSVD), followed by mutations of the collagen type IV genes (COL4A1/A2) [1]. Among the various presentations of the latter, a specific phenotype comprising hereditary angiopathy, nephropathy, aneurysms and cramps (HANAC) has been described [1]. In some patients with features highly suggestive of CADASIL, no NOTCH3 mutations are identified; these are called CADASIL-like patients [2] and a CADASIL-scale has been introduced for pre-genetic screening [3]. COL4A1/A2-like patients have not been described yet. …
Appendix
Available only for authorised users
Literature
1.
Plaisier E, Gribouval O, Alamowitch S et al (2007) COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 357:2687–2695CrossRefPubMed
2.
Nannucci S, Pescini F, Bertaccini B et al (2015) Clinical, familial, and neuroimaging features of CADASIL-like patients. Acta Neurol Scand 131:30–36CrossRefPubMed
3.
Pescini F, Nannucci S, Bertaccini B et al (2012) The cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) scale: a screening tool to select patients for NOTCH3 gene analysis. Stroke 43:2871–2876CrossRefPubMed
4.
5.
Meuwissen ME, Halley DJ, Smit LS et al (2015) The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med 17(11):843–853CrossRefPubMed
Metadata
Title
An unusual phenocopy of the HANAC syndrome without genetic involvement of COL4A1/COL4A2
Authors
Anastasia Bougea
Elisabeth Kapaki
Vassilis Constantinides
Christos Yapijakis
George P. Paraskevas
Publication date
01-03-2018
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 1/2018
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-018-0890-3

Other articles of this Issue 1/2018

Acta Neurologica Belgica 1/2018 Go to the issue

Letter to the Editor

Epstein–Barr virus infection antedating bilateral hypoglossal nerve palsy with the IgG anti-GalNAc-GD1a antibody

Editorial

Acta Neurologica Belgica

Correction

Correction to: Management of immune thrombocytopenia in multiple sclerosis patients treated with alemtuzumab: a Belgian consensus

Acknowledgements to Referees

Acknowledgement to referees 2017

Neuro-Images

MRI findings in a case of Lissauer form of neurosyphilis

Original Article

Is there any relationship between quality of life and polysomnographically detected sleep parameters/disorders in stable myasthenia gravis?