Myopathy causing camptocormia in idiopathic Parkinson's disease: A multidisciplinary approach

Movement Disorders

Volumn 25, Issue 5, 2010, Pages 552-559

  Spuler, Simone ^a   Krug, Henriette ^a   Klein, Christine ^b   Medialdea, Isabel Chaure ^a   Jakob, Wibke ^a   Ebersbach, Georg ^c   Gruber, Doreen ^a   Hoffmann, Karl Titus ^a   Trottenberg, Thomas ^a   Kupsch, Andreas ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c Movement Disorder Clinic   (Germany)

Author keywords

Camptocormia; Head drop syndrome; Myopathy; Parkinson's disease; Protein surplus myopathy

Indexed keywords

PARKIN;

ADULT; AGED; ARTICLE; CAMPTOCORMIA; CLINICAL ARTICLE; CLINICAL EXAMINATION; ELECTROMYOGRAM; FEMALE; GENETIC ANALYSIS; HEAD DROP SYNDROME; HUMAN; MALE; MOTOR DYSFUNCTION; MUSCLE CELL; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; PRIORITY JOURNAL;

EID: 77951228536     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22913     Document Type: Article

References (38)

1. Benatru I, Vaugoyeau M, Azulay JP. Postural disorders in Parkinson's disease. Anomalies de la posture dans la maladie de Parkinson. Neurophysiol Clin 2008;38:459-465.
2. Azher SN, Jankovic J. Camptocormia: pathogenesis, classification, and response to therapy. Neurology 2005;65:355-359.
3. Umapathi T, Chaudhry V, Cornblath D, Drachman D, Griffin J, Kuncl R. Head drop and camptocormia. J Neurol Neurosurg Psychiatry 2002;73:1-7.
4. Tiple D, Fabbrini G, Colosimo C, et al. Camptocormia in Parkinson disease: an epidemiological and clinical study. J Neurol Neurosurg Psychiatry 2009;80:145-148.
5. Djaldetti R, Mosberg-Galili R, Sroka H, Merims D, Melamed E. Camptocormia (bent spine) in patients with Parkinson's disease - characterization and possible pathogenesis of an unusual phenomenon. Mov Disord 1999;14:443-447. (Pubitemid 30011654)
6. Slawek J, Derejko M, Lass P. Camptocormia as a form of dystonia in Parkinson's disease. Eur J Neurol 2003;10:107-108. (Pubitemid 36114955)
7. Wunderlich S, Csoti I, Reiners K, et al. Camptocormia in Parkinson's disease mimicked by focal myositis of the paraspinal muscles. Mov Disord 2002;17:598-600. (Pubitemid 36040978)
8. Schabitz WR, Glatz K, Schuhan C, et al. Severe forward flexion of the trunk in Parkinson's disease: focal myopathy of the paraspinal muscles mimicking camptocormia. Mov Disord 2003;18: 408-414. (Pubitemid 36531454)
9. Lepoutre AC, Devos D, Blanchard-Dauphin A, et al. A specific clinical pattern of camptocormia in Parkinson's disease. J Neurol Neurosurg Psychiatry 2006;77:1229-1234. (Pubitemid 44654751)
10. Bonneville F, Bloch F, Kurys E, et al. Camptocormia and Parkinson's disease: MR imaging. Eur Radiol 2008;18:1710-1719.
11. Okamiya S, Ito H, Saito T, Kowa H, Torii J. A case of isolated neck extensor myopathy with parkinsonism. Rinsho Shinkeigaku 1997;37:393-396. (Pubitemid 27391077)
12. Holler I, Dirnberger G, Pirker W, Auff E, Gerschlager W. Camptocormia in idiopathic Parkinson's disease: [(123)I]beta-CIT SPECT and clinical characteristics. Eur Neurol 2003;50:118-120.
13. Micheli F, Cersosimo MG, Piedimonte F. Camptocormia in a patient with Parkinson disease: beneficial effects of pallidal deep brain stimulation. Case report. J Neurosurg 2005;103:1081-1083. (Pubitemid 43194558)
14. Ozer F, Ozturk O, Meral H, Serdaroglu P, Yayla V. Camptocormia in a patient with Parkinson disease and a myopathy with nemaline rods. Am J Phys Med Rehabil 2007;86:3-6. (Pubitemid 46360557)
15. Shinjo SK, Torres SC, Radu AS. Camptocormia: a rare axial myopathy disease. Clinics 2008;63:416-417.
16. Laroche M, Delisle MB, Aziza R, Lagarrigue J, Mazieres B. Is Camptocormia a primary muscle disease?. Spine 1995; 20:1011-1016.
17. Delisle MB, Laroche M, Dupont H, Rochaix P, Rumeau JL. Morphological analysis of paraspinal muscles: comparison of progressive lumbar kyphosis (camptocormia) and narrowing of lumbar canal by disc protrusions. Neuromuscul Disord 1993;3: 579-582. (Pubitemid 24050842)
18. Inzelberg R, Hattori N, Nisipeanu P, et al. Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation. Neurology 2003;60:1393-1394.
19. Askanas V, Engel WK, Alvarez RB, McFerrin J, Broccolini A. Novel immunolocalization of alpha-synuclein in human muscle of inclusion-body myositis, regenerating and necrotic muscle fibers, and at neuromuscular junctions. J Neuropathol Exp Neurol 2000;59:592-598.
20. Paciello O, Wojcik S, Engel WK, McFerrin J, Askanas V. Parkin and its association with alpha-synuclein and AbetaPP in inclusion- body myositis and AbetaPP-overexpressing cultured human muscle fibers. Acta Myol 2006;25:13-22.
21. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-69.
22. Greene JC, Whitworth AJ, Kuo I, Andrews LA, Feany MB, Pallanck LJ. Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants. Proc Natl Acad Sci USA 2003;100:4078-4083.
23. Yang Y, Gehrke S, Imai Y, et al. Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin. Proc Natl Acad Sci USA 2006;103:10793-10798.
24. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
25. Dubowitz V, Sewry CA. Muscle biopsy: a practical approach. Edinburgh: Sanders/Elsevier; 2007.
26. Klein C, Djarmati A, Hedrich K, et al. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005;13:1086-1093.
27. Djarmati A, Guzvic M, Grunewald A, et al. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord 2007;22:1708-1714.
28. Demoulin C, Crielaard JM, Vanderthommen M. Spinal muscle evaluation in healthy individuals and low-back-pain patients: a literature review. Joint Bone Spine 2007;74:9-13.
29. Goebel HH, Muller HD. Protein aggregate myopathies. Semin Pediatr Neurol 2006;13:96-103.
30. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004; 127:439-451.
31. Abeliovich A, Schmitz Y, Farinas I, et al. Mice lacking alphasynuclein display functional deficits in the nigrostriatal dopamine system. Neuron 2000;25:239-252.
32. Braak H, Del TK, Sandmann-Kiel D, Rub U, Schultz C. Nerve cells expressing heat-shock proteins in Parkinson's disease. Acta Neuropathol 2001;102:449-454.
33. Cooper AA, Gitler AD, Cashikar A, et al. Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models. Science 2006;313:324-328.
34. Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, et al. Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord 2005;20:424-431.
35. Schlitter AM, Kurz M, Larsen JP, et al. Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts. Acta Neurol Scand 2006;113:9-13.
36. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652-662.
37. Zou HQ, Chen B, Ma QL, et al. New polymorphism (IVS3-20 T→C) of the parkin gene associated with the early-onset Parkinson's disease in Chinese. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004;21:219-223. (Pubitemid 38797130)
38. Simmons EH, Graziano GP, Heffner R, Jr. Muscle disease as a cause of kyphotic deformity in ankylosing spondylitis. Spine 1991;16:351-360.