Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

Brain : a Journal of Neurology
Kristien PeetersAlbena Jordanova

Abstract

Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13. Recent developments in next generation sequencing technologies, however, have unveiled a growing number of clinical conditions designated as non-5q forms of spinal muscular atrophy. At present, 16 different genes and one unresolved locus are associated with proximal non-5q forms, having high phenotypic variability and diverse inheritance patterns. This review provides an overview of the current knowledge regarding the phenotypes, causative genes, and disease mechanisms associated with proximal SMN1-negative spinal muscular atrophies. We describe the molecular and cellular functions enriched among causative genes, and discuss the challenges in the post-genomics era of spinal muscular atrophy research.

References

Mar 1, 1987·Journal of Neurology, Neurosurgery, and Psychiatry·J WildeD Thrush
Feb 1, 1988·American Journal of Diseases of Children·F GreenbergR L Haun
Nov 1, 1982·Journal of Neurology, Neurosurgery, and Psychiatry·A E HardingJ R Ponsford
Mar 1, 1980·Journal of the Neurological Sciences·A E Harding, P K Thomas
Jan 1, 1995·Human Pathology·Katri VuopalaR Herva
Sep 1, 1996·Human Molecular Genetics·K IsozumiTeepu Siddique
Jun 1, 1997·Annals of Neurology·H TakashimaM Osame
May 16, 1998·Human Molecular Genetics·Diane E MerryKenneth H Fischbeck
Jan 4, 2001·Pacing and Clinical Electrophysiology : PACE·H M BécaneD Duboc
Nov 26, 2002·Nature Cell Biology·Theodoros MatanisCasper C Hoogenraad
Dec 10, 2002·Archives of Neurology·Anne D SperfeldC Oliver Hanemann
Jan 28, 2003·American Journal of Medical Genetics. Part a·Sabine Rudnik-SchönebornKlaus Zerres
Apr 4, 2003·Human Mutation·Jean-Christophe CharniotMichel Komajda
Apr 15, 2003·The Journal of Biological Chemistry·Makoto SuzukiMasashi Imai
May 6, 2003·Science·Majid HafezparastElizabeth M C Fisher
May 7, 2003·Journal of Child Neurology·Michael S SalmanLaurence Becker
Jun 1, 1953·American Journal of Obstetrics and Gynecology·J M MORRIS
Sep 18, 2003·Trends in Molecular Medicine·Giuseppe Novelli, Maria Rosaria D'Apice
Oct 29, 2003·Proceedings of the National Academy of Sciences of the United States of America·Wolfgang Liedtke, Jeffrey M Friedman
Nov 12, 2003·The EMBO Journal·Casper C HoogenraadAnna Akhmanova
Feb 3, 2004·The Journal of Clinical Investigation·Jan LammerdingRichard T Lee
Feb 11, 2004·Nature Genetics·Maria-Céu MoreiraMichel Koenig
Apr 24, 2004·American Journal of Human Genetics·Ying-Zhang ChenPhillip F Chance
May 21, 2004·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Erica S Chevalier-LarsenDiane E Merry
Feb 25, 2005·Neurology·Anne-Dorte SperfeldJan Kassubek
Dec 1, 2006·Neurogenetics·Sabine Rudnik-SchönebornKlaus Zerres
Jan 17, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Devin DressmanLisa Baumbach-Reardon
Aug 8, 2007·Developmental Cell·Ilya GrigorievAnna Akhmanova
Sep 4, 2007·Clinical Neurology and Neurosurgery·Kengo MaedaHitoshi Yasuda
Sep 7, 2007·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Eva TeulingCasper C Hoogenraad
Nov 8, 2007·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Stephanie K GeigerDieter Weichenhan
Dec 28, 2007·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Xiang-Jun ChenBrian Popko
Jan 9, 2008·American Journal of Human Genetics·Juliane RamserLisa Baumbach-Reardon
Jan 22, 2008·Nature Genetics·Heidi O NousiainenLeena Peltonen
Feb 7, 2008·American Journal of Human Genetics·Maria K TsaousidouAndrew H Crosby
Mar 4, 2008·American Journal of Human Genetics·Shirley RainierJohn K Fink
Apr 18, 2008·Orphanet Journal of Rare Diseases·Sivakumar Sathasivam
Nov 20, 2008·PloS One·Kristoffer S LarsenSteven P Gross
Dec 3, 2008·Disease Models & Mechanisms·Jessica A Hurt, Pamela A Silver
Dec 17, 2008·Annals of the New York Academy of Sciences·Wolfgang Liedtke
Mar 5, 2009·Annals of Neurology·Haruhiko BannoGen Sobue
Oct 20, 2009·Arquivos de neuro-psiquiatria·Cristiane Borges PatrocloMaria Teresa Alves Hirata
Nov 17, 2009·Nature Genetics·Sarah B NgMichael J Bamshad
Dec 29, 2009·Nature Genetics·Guida LandouréCharlotte J Sumner
Dec 29, 2009·Nature Genetics·Michaela Auer-GrumbachChristian Guelly
Jan 28, 2010·Human Mutation·Katherine J DickAndrew H Crosby
Aug 10, 2010·Lancet Neurology·Masahisa KatsunoJapan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group
Oct 14, 2010·The Journal of Biological Chemistry·Han-Jou ChenJackie S de Belleroche
Nov 16, 2010·Nature Genetics·Lisenka E L VissersJoris A Veltman
Feb 22, 2011·Journal of Neurology·José BercianoPeter De Jonghe
Sep 23, 2011·Nature·Hossein NajmabadiH Hilger Ropers
Oct 27, 2011·Journal of Neurology, Neurosurgery, and Psychiatry·Alexander M RossorMary M Reilly
Oct 29, 2011·Molecular and Cellular Neurosciences·Stephen R TymanskyjPhillip R Gordon-Weeks
Nov 4, 2011·Orphanet Journal of Rare Diseases·Adele D'AmicoEnrico Bertini
Nov 18, 2011·Neuromuscular Disorders : NMD·Sabine Rudnik-SchönebornKlaus Zerres
Nov 22, 2011·Developmental Medicine and Child Neurology·Geetha AnandSandeep Jayawant
Dec 2, 2011·Human Molecular Genetics·Kurt J De VosChristopher C J Miller
Mar 1, 2012·Journal of Medical Genetics·Marjolein H WillemsenTjitske Kleefstra
Apr 27, 2012·European Journal of Human Genetics : EJHG·Sini PenttiläBjarne Udd
Jun 7, 2012·Progress in Neurobiology·Kenneth H Fischbeck
Jun 29, 2012·Brain : a Journal of Neurology·Janel O JohnsonAndrew B Singleton
Jul 14, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Gen NishimuraSheila Unger
Jul 25, 2012·Neuromuscular Disorders : NMD·Marianna CiccolellaEnrico Bertini
Aug 1, 2012·Neurogenetics·Yoshinori TsurusakiNaomichi Matsumoto
Aug 7, 2012·Journal of Inherited Metabolic Disease·Tobias B HaackHolger Prokisch
Jan 4, 2013·Neurology·Sabine Rudnik-SchönebornKlaus Zerres
Feb 14, 2013·JAMA : the Journal of the American Medical Association·Howard Bauchner, Phil B Fontanarosa
Mar 13, 2013·Nature Reviews. Genetics·Heidi L Rehm
Mar 13, 2013·Proceedings of the National Academy of Sciences of the United States of America·Christian BeetzAnjon Audhya
May 15, 2013·American Journal of Human Genetics·Kristien PeetersAlbena Jordanova
May 15, 2013·American Journal of Human Genetics·Emily C OatesMary M Reilly
May 22, 2013·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Patrick MalafronteKimmo J Hatanpaa
Jul 28, 2013·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Tim W RattayMatthis Synofzik
Oct 11, 2013·Human Mutation·Sarah L SawyerKym M Boycott
Oct 22, 2013·Arquivos de neuro-psiquiatria·Osvaldo M Takayanagui
Nov 12, 2013·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Carlotta SpagnoliCarlos de Sousa
Nov 12, 2013·Arquivos de neuro-psiquiatria·Victor KosacCaroline Bittar
Nov 21, 2013·Acta Neuropathologica Communications·Marijn KuijpersDick Jaarsma
Nov 21, 2013·Brain : a Journal of Neurology·A Reghan FoleyHenry Houlden
Dec 18, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Matthis SynofzikBrunhilde Wirth
Dec 24, 2013·Neuromuscular Disorders : NMD·Sini PenttiläBjarne Udd
Jan 9, 2014·Journal of the Royal Society of Medicine·Dirk BäumerMartin R Turner
Jan 29, 2014·Journal of Pediatric Neurosciences·Vahideh ToopchizadehAfshin Habibzadeh
Feb 15, 2014·Orphanet Journal of Rare Diseases·Veerle Rc EggensFrank Baas
Mar 5, 2014·The Journal of Clinical Investigation·Thomas M WishartThomas H Gillingwater

Citations

Oct 20, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Teodora ChamovaIvailo Tournev
Nov 28, 2014·Annals of Neurology·Sini PenttiläBjarne Udd
Aug 5, 2015·Stem Cells International·Wenbin WanXiantao Tai
Dec 23, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Nidhi GargMatthew C Kiernan
Oct 3, 2017·Continuum : Lifelong Learning in Neurology·Stephen A Goutman
Mar 15, 2019·American Journal of Medical Genetics. Part a·Iliyana PachevaIvan Ivanov
May 19, 2019·American Journal of Medical Genetics. Part a·Mert KarakayaBrunhilde Wirth
Nov 11, 2019·Journal of Neuromuscular Diseases·David Christof SchorlingJanbernd Kirschner
Jan 30, 2020·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·A I Gayduk, Ya V Vlasov
Mar 18, 2020·American Journal of Medical Genetics. Part a·Rebecca MarkovitzLorraine Potocki
Jul 14, 2020·American Journal of Medical Genetics. Part a·Sonia AmabileSaquib A Lakhani
Mar 3, 2020·Frontiers in Genetics·Elana VorsterAmanda Krause
Jul 28, 2020·Frontiers in Veterinary Science·Giulia CagnottiClaudio Bellino
Dec 5, 2020·Annals of Clinical and Translational Neurology·Lidia Gonzalez-QueredaIvonne Jericó
Feb 12, 2021·Orphanet Journal of Rare Diseases·Paulius PalaimaAlbena Jordanova
Apr 16, 2020·Neurobiology of Disease·Elena AbatiStefania Corti
Apr 8, 2021·Biochemistry. Biokhimii︠a︡·Ekaterina S VinogradovaEkaterina Yu Nikonova

Methods Mentioned

BETA
SMA
biopsies
biopsy
transgenic
SMAs
exome sequencing

Related Concepts

Hereditary Motor Neuronopathy
Late Onset Disorders
Anterior Horn Cells
Genes
Motor Neurons
Muscle
Spinal Muscular Atrophy
Nerve Degeneration
Research
Spinal Cord

Related Feeds

Cajal Bodies & Gems

Cajal bodies or coiled bodies are dense foci of coilin protein. Gemini of Cajal bodies, or gems, are microscopically similar to Cajal bodies. It is believed that Cajal bodies play important roles in RNA processing while gems assist the Cajal bodies. Find the latest research on Cajal bodies and gems here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating genetic alterations in this genetically heterogeneous disorder.