Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study

Cytoskeleton
Katharina NeubauerBarbara Zieger

Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with episodic, recurrent, and painful neuropathies affecting the nerves of the brachial plexus. In this study, we report on a family of Lebanese descent with HNA onset in early childhood. The affected family members presented with platelet dysfunction. Platelet aggregation was reduced after stimulation with the agonists ADP and epinephrine in all affected family members. Flow cytometric analyses revealed impaired platelet δ-secretion. The index patient and one brother suffered from kidney cysts. Molecular genetic analysis revealed a heterozygous duplication of exon 2 within the septin 9 (SEPT9) gene in all the affected family members. Such a young child with HNA (aged 2 years) caused by SEPT9 duplication has not been described so far.

References

Apr 1, 1988·Archives of Neurology·P L BernsenJ T Janssen
Apr 1, 1985·Acta Neurologica Scandinavica·E M AiraksinenM Haltia
Dec 22, 1999·European Journal of Human Genetics : EJHG·J MeulemannV Timmerman
Jun 26, 2002·Journal of Neurology, Neurosurgery, and Psychiatry·C J KleinP J Dyck
Nov 13, 2003·Genome Biology·Makoto Kinoshita
Oct 21, 2004·The Journal of Pathology·Peter A Hall, S E Hilary Russell
Sep 28, 2005·Nature Genetics·Gregor KuhlenbäumerPhillip F Chance
Dec 24, 2005·Brain : a Journal of Neurology·Nens van Alfen, Baziel G M van Engelen
May 19, 2006·Journal of Thrombosis and Haemostasis : JTH·C MartínezJ Ware
Apr 21, 2007·Journal of Neurology·Nens van Alfen
Jun 26, 1948·Lancet·M J PARSONAGE, J W A TURNER
Mar 27, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·J J J van EijkB G M van Engelen
Nov 27, 2009·Journal of Medical Genetics·A M B CollieM C Hannibal
Dec 19, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·M UedaJ-i Kira
Mar 30, 2010·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Christian Høst, Liselotte Skov
Jan 5, 2011·Neuromuscular Disorders : NMD·M RussoM M Reilly
Sep 18, 2012·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·E Leshinsky-SilverT Lerman-Sagie
Oct 29, 2014·The Journal of Cell Biology·Lee DolatElias T Spiliotis
Jan 13, 2015·The Journal of Biological Chemistry·Elmira TokhtaevaOlga Vagin
Jan 28, 2015·Journal of Pediatric Neurosciences·Shikha JainBhavna Dhingra Bhan
Jan 10, 2018·Muscle & Nerve·Fouad Al-Ghamdi, Partha S Ghosh

❮ Previous
Next ❯

Citations

Apr 2, 2019·Cytoskeleton·Serge Mostowy, Helge Ewers
Mar 30, 2019·Cytoskeleton·Monika BankoHelge Ewers
Apr 29, 2019·Current Treatment Options in Neurology·Elena ShaninaRobert Glenn Smith
Nov 18, 2020·Thrombosis and Haemostasis·Katharina NeubauerBarbara Zieger
Aug 27, 2021·Spine Surgery and Related Research·George Fagundes FirminoRicardo Acácio Dos Santos
Jan 21, 2022·Thrombosis and Haemostasis·Barbara ZiegerKarin M Hoffmeister

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies

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.

© 2022 Meta ULC. All rights reserved