Spinal muscular atrophy

Handbook of Clinical Neurology
Eveline S Arnold, Kenneth H Fischbeck

Abstract

Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport. Cell culture and animal models have helped to define the disease mechanism and to identify targets for therapeutic intervention. The main focus for developing treatment has been to increase SMN levels, and accomplishing this with small molecules, oligonucleotides, and gene replacement has been quite. An oligonucleotide, nusinersen, was recently approved for treatment in patients, and confirmatory studies of other agents are now under way.

Citations

Jun 5, 2020·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Victoria L HodgkinsonLawrence Korngut
Dec 6, 2019·Frontiers in Neuroscience·Lindsay PoppeRobin Lemmens
Aug 8, 2019·Acta neurologica Belgica·Antoon Meylemans, Jan De Bleecker
May 17, 2019·The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG·Erin E Neil, Elizabeth K Bisaccia
Feb 23, 2021·Annals of Clinical and Translational Neurology·Jiwon LeeJeehun Lee
Feb 18, 2021·Journal of Clinical Neuromuscular Disease·Susan T IannacconeDale Swift
Apr 25, 2021·Seminars in Pediatric Neurology·Stefan NicolauJerry R Mendell
May 18, 2021·Child Neurology Open·Katarzyna PierzchlewiczKatarzyna Kotulska

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