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Front Biosci (Landmark Ed) 2022 Jun;27(6):179

University of Medicine and Pharmacy "Carol Davila", 020021 Bucharest, Romania.

Introduction: Spinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their loss and resulting in muscle waste and motor deficiency. Nusinersen, the first SMN2 pre-mRNA targeted therapy approved by the Food and Drug Administration and the European Medicines Agency, has demonstrated high efficacy in improving motor function, as well as respiratory and nutritional statuses.

Materials And Methods: We observed 55 patients (children/adolescents) diagnosed with spinal muscular atrophy (SMA), who received nusinersen therapy. Read More

Medicina (Kaunas) 2022 Jun 13;58(6). Epub 2022 Jun 13.

Section of High Resolution Brain Positron Emission Tomography Imaging, Division of Nuclear Medicine and Molecular Imaging, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

We appreciate Ahmed Sami Aljabali and his colleagues for their interest and comments [... Read More

Medicina (Kaunas) 2022 Jun 6;58(6). Epub 2022 Jun 6.

Neuroscience Department, Medical Research Group of Egypt, Zagazig 44523, Egypt.

We read with interest the article by Abbas et al. [.. Read More

Biology (Basel) 2022 Jun 10;11(6). Epub 2022 Jun 10.

Latin American Network for the Implementation and Validation of Clinical Pharmacogenomics Guidelines (RELIVAF-CYTED), 28001 Madrid, Spain.

The condition known as 5q spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the and genes. It is one of the most common pediatric recessive genetic diseases, and it represents the most common cause of hereditary infant mortality. After decades of intensive basic and clinical research efforts, and improvements in the standard of care, successful therapeutic milestones have been developed, delaying the progression of 5q SMA and increasing patient survival. Read More

Biology (Basel) 2022 May 27;11(6). Epub 2022 May 27.

Laboratory of Cytogenomics and Animal Genomics (CAG), Department of Genetics and Biotechnology (DGB), University of Trás-os-Montes and Alto Douro (UTAD), 5000-801 Vila Real, Portugal.

Transposable elements (TEs) are interspersed repetitive and mobile DNA sequences within the genome. Better tools for evaluating TE-derived sequences have provided insights into the contribution of TEs to human development and disease. Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease that is caused by deletions or mutations in the () gene but retention of its nearly perfect orthologue . Read More

Eur J Paediatr Neurol 2022 Jun 5;39:103-109. Epub 2022 Jun 5.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder with limited treatment options. Nusinersen is the first disease-modifying therapy to treat children and adults with SMA. This study aimed to review the safety, tolerability, and efficacy data of a nusinersen treatment program in Polish children. Read More

Drug Des Devel Ther 2022 16;16:1865-1883. Epub 2022 Jun 16.

Department of Neuropediatrics, Astrid Lindgren Children´s Hospital, Karolinska University Hospital, Stockholm, Sweden.

SMA (5q SMA) is an autosomal recessive neuromuscular disease with an estimated incidence of approximately 1 in 11,000 live births, characterized by progressive degeneration and loss of α-motor neurons in the spinal cord and brain stem, resulting in progressive muscle weakness. The disease spectrum is wide, from a serious congenital to a mild adult-onset disease. SMA is caused by biallelic mutations in the gene and disease severity is modified primarily by copy number. Read More

Eur Spine J 2022 Jun 21. Epub 2022 Jun 21.

Epworth Hospital Richmond, 89 Bridge Road, Richmond, VIC, 3121, Australia.

Introduction: Hirayama syndrome is likely caused by a forward displacement of the posterior dura during cervical flexion leading to changes in the muscles of the fingers and wrist. The aim of this systematic review was to document the number of reported cases, the necessity of dynamic MRI of the cervical spine and the subsequent treatment.

Methods And Materials: A systematic review was conducted and the Pubmed/Medbase, Cochrane, Google, Embase and Ovid database were searched for (Hirayama) AND ((disease) OR (syndrome)). Read More

Cell Mol Life Sci 2022 Jun 21;79(7):374. Epub 2022 Jun 21.

Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Neurology Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

Myostatin is a negative regulator of skeletal muscle growth secreted by skeletal myocytes. In the past years, myostatin inhibition sparked interest among the scientific community for its potential to enhance muscle growth and to reduce, or even prevent, muscle atrophy. These characteristics make it a promising target for the treatment of muscle atrophy in motor neuron diseases, namely, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which are rare neurological diseases, whereby the degeneration of motor neurons leads to progressive muscle loss and paralysis. Read More

Front Mol Neurosci 2022 3;15:931301. Epub 2022 Jun 3.

Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT, United States.

Spinal and Bulbar Muscular Atrophy (SBMA) is an X-linked adult-onset progressive neuromuscular disease that affects the spinal and bulbar motor neurons and skeletal muscles. SBMA is caused by expansion of polymorphic CAG trinucleotide repeats in the () gene, resulting in expanded glutamine tract in the AR protein. Polyglutamine (polyQ) expansion renders the mutant AR protein toxic, resulting in the formation of mutant protein aggregates and cell death. Read More

Nat Med 2022 Jun 17. Epub 2022 Jun 17.

Novartis Gene Therapies, Inc., Bannockburn, IL, USA.

Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated within six postnatal weeks. Of 15 children with three SMN2 copies treated before symptom onset, all stood independently before 24 months (P < 0. Read More

Nat Med 2022 Jun 17. Epub 2022 Jun 17.

Novartis Gene Therapies, Inc., Bannockburn, IL, USA.

SPR1NT ( NCT03505099 ) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report final results for 14 children with two copies of SMN2, expected to develop spinal muscular atrophy (SMA) type 1. Efficacy was compared with a matched Pediatric Neuromuscular Clinical Research natural-history cohort (n = 23). Read More

Neurobiol Dis 2022 Jun 17:105795. Epub 2022 Jun 17.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, 50931 Cologne, Germany. Electronic address:

Spinal muscular atrophy (SMA) is a devastating genetically inherited neuromuscular disorder characterized by the progressive loss of motor neurons in the spinal cord, leading to muscle atrophy and weakness. Although SMA is caused by homozygous mutations in SMN1 gene, the disease severity is mainly determined by SMN2 copy number, an almost identical gene that produces ~10% correctly spliced SMN transcripts. Recently, three FDA- and EMA-approved therapies that either increase correctly spliced SMN2 transcripts (nusinersen and risdiplam) or replace SMN1 gene (onasemnogen abeparvovec-xioi) have revolutionized the clinical outcome of SMA patients. Read More

Phytomedicine 2022 May 25;104:154206. Epub 2022 May 25.

Department of Nephrology, and Guangdong Provincial Key Laboratory of Autophagy and Major Chronic Non-communicable Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, China. Electronic address:

Background: Immune activation, chronic inflammation, and renal interstitial fibrosis (RIF) are associated with chronic kidney disease (CKD). The herbal formula, Shenkang injection (SKI), has been reported to attenuate RIF. However, the mechanisms by which SKI alleviates renal fibrosis, especially the role of natural killer (NK) cells, are unknown and require exploration. Read More

Front Cell Neurosci 2022 3;16:896854. Epub 2022 Jun 3.

INMG-Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Faculté de Médecine Lyon Est, Lyon, France.

gene encodes a protein expressed in all tissues and enriched in the brain. MORC2 protein is composed of a catalytic ATPase domain, three coil-coiled domains allowing dimerization or protein complex interaction, a zinc-finger CW domain allowing DNA interaction, and a CHROMO-like (CHRromatin Organization Modifier) domain. Recently, or dominantly inherited heterozygous mutations have been associated with a spectrum of disorders affecting the peripheral nervous system such as the Charcot-Marie-Tooth disease, spinal muscular atrophy-like phenotype disorder, or a neurodevelopmental syndrome associated with developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). Read More

World Neurosurg 2022 Jun 15. Epub 2022 Jun 15.

Investigations performed at Pediatric Orthopaedics; Department of Trauma, Orthopaedic and Plastic Surgery, University Medical Center Goettingen; Robert-Koch-Str. 40, 37075, Goettingen, Germany.

Background: The majority of children with spinal muscular atrophy (SMA) develop spinal deformity, which may require surgical intervention. In addition to poor bone stock, vertebral body shape may hinder the placement of spinal implants resulting in complications and poor outcome. The aim of this study was to analyze whether vertebral body morphology of SMA children and adolescents is altered in comparison to healthy age-matched controls. Read More

Lancet Neurol 2022 Jul;21(7):585-587

Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht 3584CX, Netherlands. Electronic address:

Sci Rep 2022 Jun 16;12(1):9296. Epub 2022 Jun 16.

Department of Basic Medicinal Sciences, Graduate School of Pharmaceutical Sciences, Nagoya University, Tokai National Higher Education and Research System, Furocho, Chikusa-ku, Nagoya, Aichi, 464-8601, Japan.

Label-free image analysis has several advantages with respect to the development of drug screening platforms. However, the evaluation of drug-responsive cells based exclusively on morphological information is challenging, especially in cases of morphologically heterogeneous cells or a small subset of drug-responsive cells. We developed a novel label-free cell sub-population analysis method called "in silico FOCUS (in silico analysis of featured-objects concentrated by anomaly discrimination from unit space)" to enable robust phenotypic screening of morphologically heterogeneous spinal and bulbar muscular atrophy (SBMA) model cells. Read More

Mol Syndromol 2022 May 4;13(3):246-253. Epub 2022 Feb 4.

Department of Medical Genetics, Medical Faculty, Adiyaman University, Adiyaman, Turkey.

Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the gene lead to SMAX2. The gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Read More

Front Neurol 2022 30;13:866243. Epub 2022 May 30.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

Spinal Muscular Atrophy (SMA) is characterized by muscle atrophy and weakness and has an incidence of 1:11. 000 live births which projects an estimated population in the UK of 650-1,300 affected patients. Standards of Care (SoC) were updated in 2017 and they have been widely adopted as a reference for implementation of care in SMA across the globe. Read More

Intractable Rare Dis Res 2022 May;11(2):63-69

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

Bloodspot screening in newborns is an exemplary public health intervention as it is essential secondary prevention with proven efficacy and benefit for the early diagnosis and prompt treatment of rare diseases. In this mini review, newborn bloodspot screening (NBS) programs of 12 countries were examined in terms of the extent of diseases/disorders screened to form recommendations for Turkey's expanded newborn screening program. Essentially, Turkey and 11 selected countries' official policies/ national programs or strategies in terms of newborn screening and the number of diseases/conditions screened were examined. Read More

Neuromuscul Disord 2022 May 11. Epub 2022 May 11.

Department of Neurosciences (Padova Neuroscience Center), University of Padova, Italy.

Cognitive abilities are often affected in progressive neurodegenerative disorders, but there is a lack of understanding about whether spinal muscular atrophy (SMA) patients experience cognitive deficits and, if so, whether they are associated with clinical factors. A sample of 22 type III SMA patients and 22 healthy controls completed a comprehensive neuropsychological battery, including tests in memory, executive function, language, visuospatial, and global cognitive functioning. Clinical severity was assessed using the Hammersmith Functional Motor Scale, the Revised Upper Limb Module and the Six Minute Walk Test. Read More

Dev Med Child Neurol 2022 Jun 14. Epub 2022 Jun 14.

IQVIA, Stockholm, Sweden.

Mol Ther Nucleic Acids 2022 Jun 6;28:910-919. Epub 2022 May 6.

Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Neuropathic pain, a heterogeneous condition, affects 7%-10% of the general population. To date, efficacious and safe therapeutic approaches remain limited. Antisense oligonucleotide (ASO) therapy has opened the door to treat spinal muscular atrophy, with many ongoing clinical studies determining its therapeutic utility. Read More

J Hum Genet 2022 Jun 13. Epub 2022 Jun 13.

Department of Neurology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Japan.

Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure leading to mortality. The main locus of ALS is motor neurons. The success of antisense oligonucleotide (ASO) therapy in spinal muscular atrophy (SMA), a motor neuron disease, has triggered a paradigm shift in developing ALS therapies. Read More

Eur J Med Genet 2022 Jun 9;65(8):104537. Epub 2022 Jun 9.

CENTOGENE GmbH Rostock, Germany.

Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). Read More

Cell 2022 Jun;185(12):2057-2070.e15

Universidad de Buenos Aires (UBA), Facultad de Ciencias Exactas y Naturales, Departamento de Fisiología, Biología Molecular y Celular and CONICET-UBA, Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE), 1428 Buenos Aires, Argentina. Electronic address:

Spinal muscular atrophy (SMA) is a motor-neuron disease caused by mutations of the SMN1 gene. The human paralog SMN2, whose exon 7 (E7) is predominantly skipped, cannot compensate for the lack of SMN1. Nusinersen is an antisense oligonucleotide (ASO) that upregulates E7 inclusion and SMN protein levels by displacing the splicing repressors hnRNPA1/A2 from their target site in intron 7. Read More

Cell 2022 Jun;185(12):2011-2013

RNA Therapeutic Institute, UMASS Chan Medical School, Worcester, MA 01581, USA. Electronic address:

In this issue of Cell, Kornblihtt and colleagues report a strategy to improve antisense oligonucleotide spinal muscular atrophy therapy. They discover that the oligonucleotide drug nusinersen, which induces exon inclusion, also promotes repressive chromatin modifications, which in turn work against exon inclusion. Notably, co-administration of histone deacetylase inhibitors counteracted this effect to augment exon inclusion. Read More

Dev Med Child Neurol 2022 Jun 8. Epub 2022 Jun 8.

Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, Belgium.

Aim: To compare the societal financial costs and quality of life (QoL) of untreated patients with spinal muscular atrophy (SMA) and treated patients identified because they presented symptoms or were identified by early testing (sibling or newborn screening).

Method: Data from two different sources were used: data collected prospectively in untreated patients from 2016 to 2018 and data collected during a prospective follow-up study from 2018 to 2021. Patients or their caregiver completed a questionnaire that included questions on direct medical and non-medical costs, indirect non-medical costs, and health-related QoL. Read More

Mol Pharmacol 2022 Jun 6. Epub 2022 Jun 6.

Neurology, Nemours Children's Hospital Delaware, United States

Spinal muscular atrophy (SMA) is an autosomal recessive, pediatric-onset disorder caused by the loss of spinal motor neurons thereby leading to muscle atrophy. SMA is caused by the loss of or mutations in the () gene. is duplicated in humans to give rise to the paralogous gene. Read More