Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

Neurology
N ElleuchA Brice

Abstract

Mutations in the SPG7 gene, which encodes paraplegin, are responsible for an autosomal recessive hereditary spastic paraplegia (HSP). To screen the SPG7 gene in a large population of HSP families compatible with autosomal recessive transmission. The authors analyzed 136 probands with pure or complex HSP for mutations in the SPG7 using denaturation high-performance liquid chromatography and direct sequencing. The authors identified 47 variants including 6 mutations, 27 polymorphisms, and 14 changes with unknown effects. In one family from Morocco, compound c.850_851delTTinsC and c.1742_1744delTGG heterozygous mutations were shown to be causative. This family had complex HSP with cerebellar impairment. Progression of the disease was rapid, resulting in a severe disease after 8 years of duration. Also detected were 20 families with one heterozygous mutation that was not found in a large control population. The mutations produced highly defective proteins in four of these families, suggesting that they were probably causative. Direct sequencing of all exons and reverse transcription PCR experiments demonstrated the absence of a second mutation. However, the p.Ala510Val missense substitution previously described as a polymorphism wa...Continue Reading

Citations

Dec 7, 2011·Acta Neuropathologica·Mariusz Karbowski, Albert Neutzner
Jun 20, 2008·Journal of Neurology·Charalampos TzoulisLaurence A Bindoff
Jul 3, 2013·Journal of Neurology·Kishore R KumarCarolyn M Sue
Oct 16, 2008·Neurogenetics·Rebecca SchüleChristian Beetz
Jun 11, 2008·Current Neurology and Neuroscience Reports·Giovanni StevaninAlexis Brice
May 15, 2009·Brain : a Journal of Neurology·Cyril GoizetGiovanni Stevanin
Sep 12, 2012·Brain : a Journal of Neurology·Koen L I van GassenBart P van de Warrenburg
Oct 16, 2012·Brain : a Journal of Neurology·Stephan KlebeAlexandra Durr
Mar 18, 2009·Human Molecular Genetics·Paola MartinelliElena I Rugarli
Oct 21, 2009·PloS One·Tobias KarlbergHerwig Schüler
Jan 28, 2014·PloS One·Iselin Marie WeddingCharalampos Tzoulis
Nov 10, 2007·Current Opinion in Neurology·Christel DepienneAlexandra Durr
Jun 24, 2014·Experimental Neurology·Temistocle Lo GiudiceAntonio Orlacchio
May 11, 2012·Clinical Genetics·E Sánchez-FerreroUNKNOWN Genetics of Spastic Paraplegia study group
Jan 13, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S L RydningC M E Tallaksen
Aug 25, 2015·American Journal of Human Genetics·Akemi J TanakaWendy K Chung
Mar 25, 2008·Revue neurologique·P CorciaC Andres
Dec 3, 2015·European Journal of Human Genetics : EJHG·Karine ChoquetBernard Brais
May 1, 2007·Annals of Neurology·Rafaela Cañete-Soler, William W Schlaepfer
May 16, 2007·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Stephan KlebeGiovanni Stevanin
Dec 22, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Amir BoukhrisGiovanni Stevanin
Feb 27, 2010·Human Mutation·Florian BonnAshraf U Mannan
Jan 29, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Tobias WarneckePeter Young
Aug 12, 2009·Biochimica Et Biophysica Acta·Paola Martinelli, Elena I Rugarli
Oct 18, 2011·Biochimica Et Biophysica Acta·Florian GerdesThomas Langer
May 5, 2012·Journal of the Neurological Sciences·Josef FinstererGiovanni Stevanin
Jul 22, 2018·Practical Neurology·Maria StavrouRichard Davenport
Nov 20, 2018·Nature Reviews. Neurology·Shamima Rahman, William C Copeland
Feb 13, 2019·Journal of Neurogenetics·Momen AlmomenGerald Pfeffer
Oct 12, 2019·Annals of Clinical and Translational Neurology·Ivan MilenkovicGerald Wiest

❮ 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.