CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, lower motor neuron disease caused by an aberrant elongation of a CAG repeat in the androgen receptor (AR) gene. The main symptoms are weakness and atrophy of bulbar, facial and limb muscles, but sensory disturbances are frequently found in...
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| Veröffentlicht in: | Brain (London, England : 1878) England : 1878), 2008-01, Vol.131 (1), p.229-239 |
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| creator | Suzuki, Keisuke Katsuno, Masahisa Banno, Haruhiko Takeuchi, Yu Atsuta, Naoki Ito, Mizuki Watanabe, Hirohisa Yamashita, Fumitada Hori, Norio Nakamura, Tomohiko Hirayama, Masaaki Tanaka, Fumiaki Sobue, Gen |
| description | Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, lower motor neuron disease caused by an aberrant elongation of a CAG repeat in the androgen receptor (AR) gene. The main symptoms are weakness and atrophy of bulbar, facial and limb muscles, but sensory disturbances are frequently found in SBMA patients. Motor symptoms have been attributed to the accumulation of mutant AR in the nucleus of lower motor neurons, which is more profound in patients with a longer CAG repeat. We examined nerve conduction properties including F-waves in a total of 106 patients with genetically confirmed SBMA (mean age at data collection = 53.8 years; range = 31–75 years) and 85 control subjects. Motor conduction velocities (MCV), compound muscle action potentials (CMAP), sensory conduction velocities (SCV) and sensory nerve action potentials (SNAP) were significantly decreased in all nerves examined in the SBMA patients compared with that in the normal controls, indicating that axonal degeneration is the primary process in both motor and sensory nerves. More profound abnormalities were observed in the nerves of the upper limbs than in those of the lower limbs. F-waves in the median nerve were absent in 30 of 106 cases (28.3%), but no cases of absent F-waves were observed in the tibial nerve. From an analysis of the relationship between CMAPs and SNAPs, patients were identified with different electrophysiological phenotypes: motor-dominant, sensory-dominant and non-dominant phenotypes. The CAG repeat size and the age at onset were significantly different among the patients with motor- and sensory-dominant phenotypes, indicating that a longer CAG repeat is more closely linked to the motor-dominant phenotype and a shorter CAG repeat is more closely linked to the sensory-dominant phenotype. Furthermore, when we classified the patients by CAG repeat size, CMAP values showed a tendency to be decreased in patients with a longer CAG repeat (≥47), while SNAPs were significantly decreased in patients with a shorter CAG repeat ( |
| doi_str_mv | 10.1093/brain/awm289 |
| format | Article |
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The main symptoms are weakness and atrophy of bulbar, facial and limb muscles, but sensory disturbances are frequently found in SBMA patients. Motor symptoms have been attributed to the accumulation of mutant AR in the nucleus of lower motor neurons, which is more profound in patients with a longer CAG repeat. We examined nerve conduction properties including F-waves in a total of 106 patients with genetically confirmed SBMA (mean age at data collection = 53.8 years; range = 31–75 years) and 85 control subjects. Motor conduction velocities (MCV), compound muscle action potentials (CMAP), sensory conduction velocities (SCV) and sensory nerve action potentials (SNAP) were significantly decreased in all nerves examined in the SBMA patients compared with that in the normal controls, indicating that axonal degeneration is the primary process in both motor and sensory nerves. More profound abnormalities were observed in the nerves of the upper limbs than in those of the lower limbs. F-waves in the median nerve were absent in 30 of 106 cases (28.3%), but no cases of absent F-waves were observed in the tibial nerve. From an analysis of the relationship between CMAPs and SNAPs, patients were identified with different electrophysiological phenotypes: motor-dominant, sensory-dominant and non-dominant phenotypes. The CAG repeat size and the age at onset were significantly different among the patients with motor- and sensory-dominant phenotypes, indicating that a longer CAG repeat is more closely linked to the motor-dominant phenotype and a shorter CAG repeat is more closely linked to the sensory-dominant phenotype. Furthermore, when we classified the patients by CAG repeat size, CMAP values showed a tendency to be decreased in patients with a longer CAG repeat (≥47), while SNAPs were significantly decreased in patients with a shorter CAG repeat (<47). In addition, we found that the frequency of aggregation in the sensory neuron cytoplasm tended to inversely correlate with the CAG repeat size in the autopsy study, supporting the view that the CAG repeat size differentially correlates with motor- and sensory-dominant phenotypes. In conclusion, our results suggest that there are unequivocal electrophysiological phenotypes influenced by CAG repeat size in SBMA.</description><identifier>ISSN: 0006-8950</identifier><identifier>EISSN: 1460-2156</identifier><identifier>DOI: 10.1093/brain/awm289</identifier><identifier>PMID: 18056738</identifier><identifier>CODEN: BRAIAK</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Action Potentials - genetics ; Adult ; Age of Onset ; Aged ; Biological and medical sciences ; CAG repeat ; Case-Control Studies ; Cell Nucleus - metabolism ; Cytoplasm - metabolism ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; electrophysiological phenotypes ; Electrophysiology ; Ganglia, Spinal - metabolism ; Humans ; Male ; Medical sciences ; Middle Aged ; Motor Neurons - physiology ; motor-dominant ; Muscular Atrophy, Spinal - genetics ; Muscular Atrophy, Spinal - physiopathology ; Neural Conduction - genetics ; Neurology ; Neurons, Afferent - physiology ; Phenotype ; Receptors, Androgen - genetics ; Receptors, Androgen - metabolism ; sensory-dominant ; spinal and bulbar muscular atrophy ; Spinal Nerve Roots ; Trinucleotide Repeats</subject><ispartof>Brain (London, England : 1878), 2008-01, Vol.131 (1), p.229-239</ispartof><rights>The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org 2007</rights><rights>2008 INIST-CNRS</rights><rights>The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c551t-a208f1d266da9849422b94cf1f91a1d5a648b435ec2de0183170f335826cce803</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,1584,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20062554$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18056738$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Suzuki, Keisuke</creatorcontrib><creatorcontrib>Katsuno, Masahisa</creatorcontrib><creatorcontrib>Banno, Haruhiko</creatorcontrib><creatorcontrib>Takeuchi, Yu</creatorcontrib><creatorcontrib>Atsuta, Naoki</creatorcontrib><creatorcontrib>Ito, Mizuki</creatorcontrib><creatorcontrib>Watanabe, Hirohisa</creatorcontrib><creatorcontrib>Yamashita, Fumitada</creatorcontrib><creatorcontrib>Hori, Norio</creatorcontrib><creatorcontrib>Nakamura, Tomohiko</creatorcontrib><creatorcontrib>Hirayama, Masaaki</creatorcontrib><creatorcontrib>Tanaka, Fumiaki</creatorcontrib><creatorcontrib>Sobue, Gen</creatorcontrib><title>CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA</title><title>Brain (London, England : 1878)</title><addtitle>Brain</addtitle><description>Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, lower motor neuron disease caused by an aberrant elongation of a CAG repeat in the androgen receptor (AR) gene. The main symptoms are weakness and atrophy of bulbar, facial and limb muscles, but sensory disturbances are frequently found in SBMA patients. Motor symptoms have been attributed to the accumulation of mutant AR in the nucleus of lower motor neurons, which is more profound in patients with a longer CAG repeat. We examined nerve conduction properties including F-waves in a total of 106 patients with genetically confirmed SBMA (mean age at data collection = 53.8 years; range = 31–75 years) and 85 control subjects. Motor conduction velocities (MCV), compound muscle action potentials (CMAP), sensory conduction velocities (SCV) and sensory nerve action potentials (SNAP) were significantly decreased in all nerves examined in the SBMA patients compared with that in the normal controls, indicating that axonal degeneration is the primary process in both motor and sensory nerves. More profound abnormalities were observed in the nerves of the upper limbs than in those of the lower limbs. F-waves in the median nerve were absent in 30 of 106 cases (28.3%), but no cases of absent F-waves were observed in the tibial nerve. From an analysis of the relationship between CMAPs and SNAPs, patients were identified with different electrophysiological phenotypes: motor-dominant, sensory-dominant and non-dominant phenotypes. The CAG repeat size and the age at onset were significantly different among the patients with motor- and sensory-dominant phenotypes, indicating that a longer CAG repeat is more closely linked to the motor-dominant phenotype and a shorter CAG repeat is more closely linked to the sensory-dominant phenotype. Furthermore, when we classified the patients by CAG repeat size, CMAP values showed a tendency to be decreased in patients with a longer CAG repeat (≥47), while SNAPs were significantly decreased in patients with a shorter CAG repeat (<47). In addition, we found that the frequency of aggregation in the sensory neuron cytoplasm tended to inversely correlate with the CAG repeat size in the autopsy study, supporting the view that the CAG repeat size differentially correlates with motor- and sensory-dominant phenotypes. In conclusion, our results suggest that there are unequivocal electrophysiological phenotypes influenced by CAG repeat size in SBMA.</description><subject>Action Potentials - genetics</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>CAG repeat</subject><subject>Case-Control Studies</subject><subject>Cell Nucleus - metabolism</subject><subject>Cytoplasm - metabolism</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>electrophysiological phenotypes</subject><subject>Electrophysiology</subject><subject>Ganglia, Spinal - metabolism</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Motor Neurons - physiology</subject><subject>motor-dominant</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>Muscular Atrophy, Spinal - physiopathology</subject><subject>Neural Conduction - genetics</subject><subject>Neurology</subject><subject>Neurons, Afferent - physiology</subject><subject>Phenotype</subject><subject>Receptors, Androgen - genetics</subject><subject>Receptors, Androgen - metabolism</subject><subject>sensory-dominant</subject><subject>spinal and bulbar muscular atrophy</subject><subject>Spinal Nerve Roots</subject><subject>Trinucleotide Repeats</subject><issn>0006-8950</issn><issn>1460-2156</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0U1v1DAQBmALgeh24cYZWUjAhdDxZ-zjsiotoghVBRVxsbzOhKYkcbATwfLrSdlVkbj05MvjeTXzEvKEwWsGVhxtkm_6I_-z48beIwsmNRScKX2fLABAF8YqOCCHOV8DMCm4fkgOmAGlS2EW5HK9OqEJB_Qjzc1vpCGmhK0fMdMxUmwxjCkOV9vcxDZ-a4JvaRfHmKjvK5qxzzFt6XCFfRy3w_yp6enFmw-rR-RB7duMj_fvknx-e_xpfVqcfTx5t16dFUEpNhaeg6lZxbWuvDXSSs43Voaa1ZZ5VimvpdlIoTDwCoEZwUqohVCG6xDQgFiSF7u5Q4o_Jsyj65ocsG19j3HKrgSwZWnUnZCDlhLsDXz2H7yOU-rnJRyzSopScTGjVzsUUsw5Ye2G1HQ-bR0Dd1OL-1uL29Uy86f7mdOmw-of3vcwg-d74PN84jr5PjT51vG5SK7m8CV5uXNxGu6KLHayySP-urU-fXdzYqnc6Zev7lJrcXFu37tz8Qf7W7KD</recordid><startdate>20080101</startdate><enddate>20080101</enddate><creator>Suzuki, Keisuke</creator><creator>Katsuno, Masahisa</creator><creator>Banno, Haruhiko</creator><creator>Takeuchi, Yu</creator><creator>Atsuta, Naoki</creator><creator>Ito, Mizuki</creator><creator>Watanabe, Hirohisa</creator><creator>Yamashita, Fumitada</creator><creator>Hori, Norio</creator><creator>Nakamura, Tomohiko</creator><creator>Hirayama, Masaaki</creator><creator>Tanaka, Fumiaki</creator><creator>Sobue, Gen</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><scope>IQODW</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>7QP</scope><scope>7QR</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>20080101</creationdate><title>CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA</title><author>Suzuki, Keisuke ; Katsuno, Masahisa ; Banno, Haruhiko ; Takeuchi, Yu ; Atsuta, Naoki ; Ito, Mizuki ; Watanabe, Hirohisa ; Yamashita, Fumitada ; Hori, Norio ; Nakamura, Tomohiko ; Hirayama, Masaaki ; Tanaka, Fumiaki ; Sobue, Gen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c551t-a208f1d266da9849422b94cf1f91a1d5a648b435ec2de0183170f335826cce803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Action Potentials - genetics</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>CAG repeat</topic><topic>Case-Control Studies</topic><topic>Cell Nucleus - metabolism</topic><topic>Cytoplasm - metabolism</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>electrophysiological phenotypes</topic><topic>Electrophysiology</topic><topic>Ganglia, Spinal - metabolism</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Motor Neurons - physiology</topic><topic>motor-dominant</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>Muscular Atrophy, Spinal - physiopathology</topic><topic>Neural Conduction - genetics</topic><topic>Neurology</topic><topic>Neurons, Afferent - physiology</topic><topic>Phenotype</topic><topic>Receptors, Androgen - genetics</topic><topic>Receptors, Androgen - metabolism</topic><topic>sensory-dominant</topic><topic>spinal and bulbar muscular atrophy</topic><topic>Spinal Nerve Roots</topic><topic>Trinucleotide Repeats</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Suzuki, Keisuke</creatorcontrib><creatorcontrib>Katsuno, Masahisa</creatorcontrib><creatorcontrib>Banno, Haruhiko</creatorcontrib><creatorcontrib>Takeuchi, Yu</creatorcontrib><creatorcontrib>Atsuta, Naoki</creatorcontrib><creatorcontrib>Ito, Mizuki</creatorcontrib><creatorcontrib>Watanabe, Hirohisa</creatorcontrib><creatorcontrib>Yamashita, Fumitada</creatorcontrib><creatorcontrib>Hori, Norio</creatorcontrib><creatorcontrib>Nakamura, Tomohiko</creatorcontrib><creatorcontrib>Hirayama, Masaaki</creatorcontrib><creatorcontrib>Tanaka, Fumiaki</creatorcontrib><creatorcontrib>Sobue, Gen</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Brain (London, England : 1878)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Suzuki, Keisuke</au><au>Katsuno, Masahisa</au><au>Banno, Haruhiko</au><au>Takeuchi, Yu</au><au>Atsuta, Naoki</au><au>Ito, Mizuki</au><au>Watanabe, Hirohisa</au><au>Yamashita, Fumitada</au><au>Hori, Norio</au><au>Nakamura, Tomohiko</au><au>Hirayama, Masaaki</au><au>Tanaka, Fumiaki</au><au>Sobue, Gen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA</atitle><jtitle>Brain (London, England : 1878)</jtitle><addtitle>Brain</addtitle><date>2008-01-01</date><risdate>2008</risdate><volume>131</volume><issue>1</issue><spage>229</spage><epage>239</epage><pages>229-239</pages><issn>0006-8950</issn><eissn>1460-2156</eissn><coden>BRAIAK</coden><abstract>Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, lower motor neuron disease caused by an aberrant elongation of a CAG repeat in the androgen receptor (AR) gene. The main symptoms are weakness and atrophy of bulbar, facial and limb muscles, but sensory disturbances are frequently found in SBMA patients. Motor symptoms have been attributed to the accumulation of mutant AR in the nucleus of lower motor neurons, which is more profound in patients with a longer CAG repeat. We examined nerve conduction properties including F-waves in a total of 106 patients with genetically confirmed SBMA (mean age at data collection = 53.8 years; range = 31–75 years) and 85 control subjects. Motor conduction velocities (MCV), compound muscle action potentials (CMAP), sensory conduction velocities (SCV) and sensory nerve action potentials (SNAP) were significantly decreased in all nerves examined in the SBMA patients compared with that in the normal controls, indicating that axonal degeneration is the primary process in both motor and sensory nerves. More profound abnormalities were observed in the nerves of the upper limbs than in those of the lower limbs. F-waves in the median nerve were absent in 30 of 106 cases (28.3%), but no cases of absent F-waves were observed in the tibial nerve. From an analysis of the relationship between CMAPs and SNAPs, patients were identified with different electrophysiological phenotypes: motor-dominant, sensory-dominant and non-dominant phenotypes. The CAG repeat size and the age at onset were significantly different among the patients with motor- and sensory-dominant phenotypes, indicating that a longer CAG repeat is more closely linked to the motor-dominant phenotype and a shorter CAG repeat is more closely linked to the sensory-dominant phenotype. Furthermore, when we classified the patients by CAG repeat size, CMAP values showed a tendency to be decreased in patients with a longer CAG repeat (≥47), while SNAPs were significantly decreased in patients with a shorter CAG repeat (<47). In addition, we found that the frequency of aggregation in the sensory neuron cytoplasm tended to inversely correlate with the CAG repeat size in the autopsy study, supporting the view that the CAG repeat size differentially correlates with motor- and sensory-dominant phenotypes. In conclusion, our results suggest that there are unequivocal electrophysiological phenotypes influenced by CAG repeat size in SBMA.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>18056738</pmid><doi>10.1093/brain/awm289</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Brain (London, England : 1878), 2008-01, Vol.131 (1), p.229-239 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Action Potentials - genetics Adult Age of Onset Aged Biological and medical sciences CAG repeat Case-Control Studies Cell Nucleus - metabolism Cytoplasm - metabolism Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases electrophysiological phenotypes Electrophysiology Ganglia, Spinal - metabolism Humans Male Medical sciences Middle Aged Motor Neurons - physiology motor-dominant Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - physiopathology Neural Conduction - genetics Neurology Neurons, Afferent - physiology Phenotype Receptors, Androgen - genetics Receptors, Androgen - metabolism sensory-dominant spinal and bulbar muscular atrophy Spinal Nerve Roots Trinucleotide Repeats |
| title | CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA |
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