René Günther1, Christoph Neuwirth2, Jan Christoph Koch3, Paul Lingor4, Nathalie Braun5, Robert Untucht6, Daniel Petzold7, Markus Weber8, Andreas Hermann9. 1. Department of Neurology, Technische Universität Dresden, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany. Electronic address: rene.guenther@uniklinikum-dresden.de. 2. Neuromuscular Disease Unit/ALS Clinic, Kantonspital St. Gallen, St. Gallen, Switzerland. Electronic address: Christoph.Neuwirth@kssg.ch. 3. Department of Neurology, University Medical Center Göttingen, Göttingen, Germany. Electronic address: jkoch@med.uni-goettingen.de. 4. Department of Neurology, University Medical Center Göttingen, Göttingen, Germany; Cluster of Excellence Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB), Germany. Electronic address: plingor@gwdg.de. 5. Neuromuscular Disease Unit/ALS Clinic, Kantonspital St. Gallen, St. Gallen, Switzerland. Electronic address: Nathalie.Braun@kssg.ch. 6. Department of Neurology, Technische Universität Dresden, Dresden, Germany. Electronic address: Robert.Untucht@uniklinikum-dresden.de. 7. Department of Neurology, Technische Universität Dresden, Dresden, Germany. Electronic address: petzold.daniel89@web.de. 8. Neuromuscular Disease Unit/ALS Clinic, Kantonspital St. Gallen, St. Gallen, Switzerland. Electronic address: markus.weber@kssg.ch. 9. Department of Neurology, Technische Universität Dresden, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany. Electronic address: andreas.hermann@uniklinikum-dresden.de.
Abstract
OBJECTIVE: There is still insufficient knowledge about natural history in adult spinal muscular atrophy, thus valid markers for treatment and disease monitoring are urgently needed. METHODS: We studied hand muscle innervation pattern of 38 adult genetically confirmed 5q spinal muscular atrophy (SMA) patients by the motor unit number index (MUNIX) method. Data were compared to healthy controls and amyotrophic lateral sclerosis (ALS) patients and systematically correlated to typical disease-relevant scores and other clinical as well as demographic characteristics. RESULTS: Denervation of hand muscles in adult SMA was not evenly distributed. By calculation of the MUNIX ratios, we identified a specific hand muscle wasting pattern for SMA which is different to the split hand in ALS. Furthermore, MUNIX parameters strongly correlated with established disease course parameters independent of disease stages. CONCLUSION: We found a pathophysiological remarkable denervation pattern of hand muscles, a 'reversed split hand'. MUNIX of single hand muscles correlated well with disease severity and thus represents an easily available biomarker for adult SMA. SIGNIFICANCE: Our data show the power of the MUNIX method as a biomarker for upcoming questions in adult SMA.
OBJECTIVE: There is still insufficient knowledge about natural history in adult spinal muscular atrophy, thus valid markers for treatment and disease monitoring are urgently needed. METHODS: We studied hand muscle innervation pattern of 38 adult genetically confirmed 5q spinal muscular atrophy (SMA) patients by the motor unit number index (MUNIX) method. Data were compared to healthy controls and amyotrophic lateral sclerosis (ALS) patients and systematically correlated to typical disease-relevant scores and other clinical as well as demographic characteristics. RESULTS: Denervation of hand muscles in adult SMA was not evenly distributed. By calculation of the MUNIX ratios, we identified a specific hand muscle wasting pattern for SMA which is different to the split hand in ALS. Furthermore, MUNIX parameters strongly correlated with established disease course parameters independent of disease stages. CONCLUSION: We found a pathophysiological remarkable denervation pattern of hand muscles, a 'reversed split hand'. MUNIX of single hand muscles correlated well with disease severity and thus represents an easily available biomarker for adult SMA. SIGNIFICANCE: Our data show the power of the MUNIX method as a biomarker for upcoming questions in adult SMA.
Authors: Claudia D Wurster; René Günther; Petra Steinacker; Jens Dreyhaupt; Kurt Wollinsky; Zeljko Uzelac; Simon Witzel; Tugrul Kocak; Benedikt Winter; Jan C Koch; Paul Lingor; Susanne Petri; Albert C Ludolph; Andreas Hermann; Markus Otto Journal: Ther Adv Neurol Disord Date: 2019-05-10 Impact factor: 6.570
Authors: Didu S T Kariyawasam; Arlene D'Silva; Cindy Lin; Monique M Ryan; Michelle A Farrar Journal: Front Neurol Date: 2019-08-19 Impact factor: 4.003
Authors: René Günther; Claudia Diana Wurster; Isabell Cordts; Jan Christoph Koch; Christoph Kamm; Daniel Petzold; Elisa Aust; Marcus Deschauer; Paul Lingor; Albert Christian Ludolph; Andreas Hermann Journal: Front Neurol Date: 2019-11-01 Impact factor: 4.003
Authors: Maren Freigang; Claudia D Wurster; Tim Hagenacker; Benjamin Stolte; Markus Weiler; Christoph Kamm; Olivia Schreiber-Katz; Alma Osmanovic; Susanne Petri; Alexander Kowski; Thomas Meyer; Jan C Koch; Isabell Cordts; Marcus Deschauer; Paul Lingor; Elisa Aust; Daniel Petzold; Albert C Ludolph; Björn Falkenburger; Andreas Hermann; René Günther Journal: Ann Clin Transl Neurol Date: 2021-03-31 Impact factor: 4.511
Authors: Maren Freigang; Petra Steinacker; Andreas Hermann; René Günther; Claudia Diana Wurster; Olivia Schreiber-Katz; Alma Osmanovic; Susanne Petri; Jan Christoph Koch; Kevin Rostásy; Björn Falkenburger; Albert Christian Ludolph; Markus Otto Journal: Orphanet J Rare Dis Date: 2021-07-28 Impact factor: 4.123