The motor neuron response to SMN1 deficiency in spinal muscular atrophy
ABSTRACT Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty‐two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiologica...
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| Veröffentlicht in: | Muscle & nerve 2014-05, Vol.49 (5), p.636-644 |
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| creator | Kang, Peter B. Gooch, Clifton L. McDermott, Michael P. Darras, Basil T. Finkel, Richard S. Yang, Michele L. Sproule, Douglas M. Chung, Wendy K. Kaufmann, Petra de Vivo, Darryl C. |
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Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty‐two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P = 0.009), a mean decrease in SMUP amplitude (−6.32 μV/year, P = 0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology. Muscle Nerve 49: 636–644, 2014 |
| doi_str_mv | 10.1002/mus.23967 |
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Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty‐two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P = 0.009), a mean decrease in SMUP amplitude (−6.32 μV/year, P = 0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology. Muscle Nerve 49: 636–644, 2014</description><identifier>ISSN: 0148-639X</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.23967</identifier><identifier>PMID: 23893312</identifier><identifier>CODEN: MUNEDE</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Action Potentials - physiology ; Adaptation, Physiological - physiology ; Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; compound motor action potential ; Disease Progression ; Electromyography ; electrophysiology ; Exons ; Female ; Gene Deletion ; Homozygote ; Humans ; Infant ; Linear Models ; Longitudinal Studies ; Male ; Middle Aged ; motor neuron disease ; Motor Neurons - physiology ; motor unit number estimation ; Muscle, Skeletal - innervation ; Muscle, Skeletal - physiopathology ; Prospective Studies ; Spinal Muscular Atrophies of Childhood - genetics ; Spinal Muscular Atrophies of Childhood - physiopathology ; spinal muscular atrophy ; Survival of Motor Neuron 1 Protein - genetics ; Young Adult</subject><ispartof>Muscle & nerve, 2014-05, Vol.49 (5), p.636-644</ispartof><rights>Copyright © 2013 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5147-3234e3c1487316385d059d5a9ae8e6eb791b3771dd0d85a3d4dab46fe738694e3</citedby><cites>FETCH-LOGICAL-c5147-3234e3c1487316385d059d5a9ae8e6eb791b3771dd0d85a3d4dab46fe738694e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmus.23967$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.23967$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23893312$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kang, Peter B.</creatorcontrib><creatorcontrib>Gooch, Clifton L.</creatorcontrib><creatorcontrib>McDermott, Michael P.</creatorcontrib><creatorcontrib>Darras, Basil T.</creatorcontrib><creatorcontrib>Finkel, Richard S.</creatorcontrib><creatorcontrib>Yang, Michele L.</creatorcontrib><creatorcontrib>Sproule, Douglas M.</creatorcontrib><creatorcontrib>Chung, Wendy K.</creatorcontrib><creatorcontrib>Kaufmann, Petra</creatorcontrib><creatorcontrib>de Vivo, Darryl C.</creatorcontrib><creatorcontrib>Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy</creatorcontrib><creatorcontrib>for the Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy</creatorcontrib><title>The motor neuron response to SMN1 deficiency in spinal muscular atrophy</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>ABSTRACT
Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty‐two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P = 0.009), a mean decrease in SMUP amplitude (−6.32 μV/year, P = 0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology. Muscle Nerve 49: 636–644, 2014</description><subject>Action Potentials - physiology</subject><subject>Adaptation, Physiological - physiology</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cohort Studies</subject><subject>compound motor action potential</subject><subject>Disease Progression</subject><subject>Electromyography</subject><subject>electrophysiology</subject><subject>Exons</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Linear Models</subject><subject>Longitudinal Studies</subject><subject>Male</subject><subject>Middle Aged</subject><subject>motor neuron disease</subject><subject>Motor Neurons - physiology</subject><subject>motor unit number estimation</subject><subject>Muscle, Skeletal - innervation</subject><subject>Muscle, Skeletal - physiopathology</subject><subject>Prospective Studies</subject><subject>Spinal Muscular Atrophies of Childhood - genetics</subject><subject>Spinal Muscular Atrophies of Childhood - physiopathology</subject><subject>spinal muscular atrophy</subject><subject>Survival of Motor Neuron 1 Protein - genetics</subject><subject>Young Adult</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kVFvFCEUhYnR2G31wT9gSHzRh2lhgAFeTLTR1WRbm7RN-0bY4a5LnYERZqr776Vuu1ETn3i43zmcew9CLyg5pITUR_2UD2umG_kIzSjRsuJCq8doRihXVcP09R7az_mGEEJVI5-ivZopzRitZ2h-sQbcxzEmHGBKMeAEeYghAx4jPj85pdjByrceQrvBPuA8-GA7XL5sp84mbMcUh_XmGXqysl2G5_fvAbr8-OHi-FO1-DL_fPxuUbWCclmxmnFgbcklGW2YEo4I7YTVFhQ0sJSaLpmU1DnilLDMcWeXvFmBZKrRRXqA3m59h2nZg2shjMl2Zki-t2ljovXm70nwa_M13hpOdFlfFoPX9wYpfp8gj6b3uYWuswHilA0VnBOileIFffUPehOnVLa_o0p6JogWhXqzpdoUc06w2oWhxNzVY8qtzO96Cvvyz_Q78qGPAhxtgR--g83_nczJ5fmDZbVV-DzCz53Cpm-mTKUwV6dzQ8-um_dniytD2S_uLKjA</recordid><startdate>201405</startdate><enddate>201405</enddate><creator>Kang, Peter B.</creator><creator>Gooch, Clifton L.</creator><creator>McDermott, Michael P.</creator><creator>Darras, Basil T.</creator><creator>Finkel, Richard S.</creator><creator>Yang, Michele L.</creator><creator>Sproule, Douglas M.</creator><creator>Chung, Wendy K.</creator><creator>Kaufmann, Petra</creator><creator>de Vivo, Darryl C.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TS</scope><scope>7U7</scope><scope>7U9</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>5PM</scope></search><sort><creationdate>201405</creationdate><title>The motor neuron response to SMN1 deficiency in spinal muscular atrophy</title><author>Kang, Peter B. ; Gooch, Clifton L. ; McDermott, Michael P. ; Darras, Basil T. ; Finkel, Richard S. ; Yang, Michele L. ; Sproule, Douglas M. ; Chung, Wendy K. ; Kaufmann, Petra ; de Vivo, Darryl C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5147-3234e3c1487316385d059d5a9ae8e6eb791b3771dd0d85a3d4dab46fe738694e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Action Potentials - physiology</topic><topic>Adaptation, Physiological - physiology</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cohort Studies</topic><topic>compound motor action potential</topic><topic>Disease Progression</topic><topic>Electromyography</topic><topic>electrophysiology</topic><topic>Exons</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Linear Models</topic><topic>Longitudinal Studies</topic><topic>Male</topic><topic>Middle Aged</topic><topic>motor neuron disease</topic><topic>Motor Neurons - physiology</topic><topic>motor unit number estimation</topic><topic>Muscle, Skeletal - innervation</topic><topic>Muscle, Skeletal - physiopathology</topic><topic>Prospective Studies</topic><topic>Spinal Muscular Atrophies of Childhood - genetics</topic><topic>Spinal Muscular Atrophies of Childhood - physiopathology</topic><topic>spinal muscular atrophy</topic><topic>Survival of Motor Neuron 1 Protein - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kang, Peter B.</creatorcontrib><creatorcontrib>Gooch, Clifton L.</creatorcontrib><creatorcontrib>McDermott, Michael P.</creatorcontrib><creatorcontrib>Darras, Basil T.</creatorcontrib><creatorcontrib>Finkel, Richard S.</creatorcontrib><creatorcontrib>Yang, Michele L.</creatorcontrib><creatorcontrib>Sproule, Douglas M.</creatorcontrib><creatorcontrib>Chung, Wendy K.</creatorcontrib><creatorcontrib>Kaufmann, Petra</creatorcontrib><creatorcontrib>de Vivo, Darryl C.</creatorcontrib><creatorcontrib>Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy</creatorcontrib><creatorcontrib>for the Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Physical Education Index</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kang, Peter B.</au><au>Gooch, Clifton L.</au><au>McDermott, Michael P.</au><au>Darras, Basil T.</au><au>Finkel, Richard S.</au><au>Yang, Michele L.</au><au>Sproule, Douglas M.</au><au>Chung, Wendy K.</au><au>Kaufmann, Petra</au><au>de Vivo, Darryl C.</au><aucorp>Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy</aucorp><aucorp>for the Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The motor neuron response to SMN1 deficiency in spinal muscular atrophy</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2014-05</date><risdate>2014</risdate><volume>49</volume><issue>5</issue><spage>636</spage><epage>644</epage><pages>636-644</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><coden>MUNEDE</coden><abstract>ABSTRACT
Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty‐two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P = 0.009), a mean decrease in SMUP amplitude (−6.32 μV/year, P = 0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology. Muscle Nerve 49: 636–644, 2014</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>23893312</pmid><doi>10.1002/mus.23967</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Action Potentials - physiology Adaptation, Physiological - physiology Adolescent Adult Child Child, Preschool Cohort Studies compound motor action potential Disease Progression Electromyography electrophysiology Exons Female Gene Deletion Homozygote Humans Infant Linear Models Longitudinal Studies Male Middle Aged motor neuron disease Motor Neurons - physiology motor unit number estimation Muscle, Skeletal - innervation Muscle, Skeletal - physiopathology Prospective Studies Spinal Muscular Atrophies of Childhood - genetics Spinal Muscular Atrophies of Childhood - physiopathology spinal muscular atrophy Survival of Motor Neuron 1 Protein - genetics Young Adult |
| title | The motor neuron response to SMN1 deficiency in spinal muscular atrophy |
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