title: Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach.
abstract: Extreme forward flexion of the spine, named camptocormia (CC), and head drop syndrome (HD) may be among the most disabling symptoms in Parkinson's disease (PD). This study aims to eludicate the etiology of PD-associated CC and HD via a multidisciplinary approach (clinical examination, electromyography, MRI, genetic analysis, muscle morphology) centering on the histology of the paraspinal muscles. We studied 17 patients with the clinical diagnosis of PD and CC or head drop syndrome and six controls. We performed muscle biopsies of paraspinal muscles and deep neck extensor muscles. Mean age at onset of postural abnormality was 66 years and mean latency between onset of parkinsonian symptoms to first signs of CC or head drop was 7 years. The electromyogram of paraspinal muscles was abnormal in 13-14 patients. Histopathology revealed chronic myopathic changes in 14 of 17 biopsies, consisting of abnormal variation in fiber size, increase in internal nuclei, and increase in connective tissue, myofibrillar disarray and similarities to protein surplus myopathies. Interestingly, heterozygous variants in the Parkin gene were found in 2 of 9 investigated patients. We conclude that CC and HD in PD are predominantly myopathic. Aberrant protein aggregation may link PD and CC.
authors.affiliation: Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin, Berlin, Germany. simone.spuler@charite.de
authors.forename: Simone
authors.initials: S
authors.lastname: Spuler
authors.forename: Henriette
authors.initials: H
authors.lastname: Krug
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Isabel Chaure
authors.initials: IC
authors.lastname: Medialdea
authors.forename: Wibke
authors.initials: W
authors.lastname: Jakob
authors.forename: Georg
authors.initials: G
authors.lastname: Ebersbach
authors.forename: Doreen
authors.initials: D
authors.lastname: Gruber
authors.forename: Karl-Titus
authors.initials: KT
authors.lastname: Hoffmann
authors.forename: Thomas
authors.initials: T
authors.lastname: Trottenberg
authors.forename: Andreas
authors.initials: A
authors.lastname: Kupsch
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D003893:Desmin / Q000378:metabolism; D016189:Dystrophin / Q000378:metabolism; D004576:Electromyography / Q000379:methods; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006257:Head / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009334:Neck Muscles / Q000378:metabolism / Q000503:physiopathology; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D012189:Retrospective Studies; D013121:Spinal Curvatures / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D003893:Desmin; D016189:Dystrophin; D003576:Electron Transport Complex IV; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein