Spasmodic dysphonia: A laryngeal control disorder specific to speech

Journal of Neuroscience

Volumn 31, Issue 3, 2011, Pages 793-797

  Ludlow, Christy L ^a,b  

^a JAMES MADISON UNIVERSITY   (United States)

^b Laboratory on Neural Bases of Communication and Swallowing   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BOTULINUM TOXIN; PROTEIN; THAP DOMAIN CONTAINING APOPTOSIS ASSOCIATED PROTEIN 1; UNCLASSIFIED DRUG;

BRAIN REGION; BRAIN STEM; EMOTION; ENCEPHALITIS; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; LARYNX; MOTONEURON; MOTOR CONTROL; PRIORITY JOURNAL; REVIEW; SPASMODIC DYSPHONIA; SPEECH; VOCALIZATION; VOICE;

DYSPHONIA; FEMALE; HUMANS; MALE; SEX FACTORS; SPEECH;

EID: 78751529269     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.2758-10.2011     Document Type: Review

References (52)

1. Abbs JH, Gracco VL (1984) Control of complex motor gestures: orofacial muscle responses to load perturbations of the lip during speech. J Neurophysiol 51:705-723.
2. Adler CH, Edwards BW, Bansberg SF (1997) Female predominance in spasmodic dysphonia. J Neurol Neurosurg Psychiatry 63:688.
3. Ali SO, Thomassen M, Schulz GM, Hosey LA, Varga M, Ludlow CL, Braun AR (2006) Alterations in CNS activity induced by botulinum toxin treatment in spasmodic dysphonia: an H215O PET study. J Speech Lang Hear Res 49:1127-1146.
4. Antonucci F, Rossi C, Gianfranceschi L, Rossetto O, Caleo M (2008) Long-distance retro-grade effects of botulinum neurotoxin A. J Neurosci 28:3689-3696.
5. Aronson AE, DeSanto LW (1981) Adductor spastic dysphonia: 1 1/2 years after recurrent laryngeal nerve resection. Ann Otol Rhinol Laryngol 90:2-6.
6. Berke GS, Blackwell KE, Gerratt BR, Verneil A, Jackson KS, Sercarz JA (1999) Selective laryngeal adductor denervation-reinnervation: a new surgical treatment for adductor spasmodic dysphonia. Ann Otol Rhinol Laryngol 108:227-231.
7. Bessière D, Lacroix C, Campagne S, Ecochard V, Guillet V, Mourey L, Lopez F, Czaplicki J, Demange P, Milon A, Girard JP, Gervais V (2008) Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways. J Biol Chem 283:4352-4363.
8. Bielamowicz S, Ludlow CL (2000) Effects of botulinum toxin on pathophysiology in spasmodic dysphonia. Ann Otol Rhinol Laryngol 109:194-203.
9. Blitzer A, Brin MF, Stewart CF (1998) Botulinum toxin management of spasmodic dysphonia (laryngeal dystonia): a 12-year experience in more than 900 patients. Laryngoscope 108:1435-1441. (Pubitemid 28465236)
10. Bloch CS, Hirano M, Gould WJ (1985) Symptom improvement of spastic dysphonia in response to phonatory tasks. Ann Otol Rhinol Laryngol 94:51-54.
11. Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R (2009) Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 8:441-446.
12. Brin MF, Blitzer A, Stewart C (1998) Laryngeal dystonia (spasmodic dysphonia): observations of 901 patients and treatment with botulinum toxin. Adv Neurol 78:237-252.
13. Chang SE, Kenney MK, Loucks TM, Poletto CJ, Ludlow CL (2009) Common neural substrates support speech and non-speech vocal tract gestures. Neuroimage 47:314-325.
14. Chhetri DK, Mendelsohn AH, Blumin JH, Berke GS (2006) Long-term follow-up results of selective laryngeal adductor denervation-reinnervation surgery for adductor spasmodic dysphonia. Laryngoscope 116:635-642.
15. Cyrus CB, Bielamowicz S, Evans FJ, Ludlow CL (2001) Adductor muscle activity abnormalities in abductor spasmodic dysphonia. Otolaryngol Head Neck Surg 124:23-30.
16. Dedo HH (1976) Recurrent laryngeal nerve section for spastic dysphonia. Ann Otol Rhinol Laryngol 85:451-459.
17. Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmu Altenmüller E, Münchau A, Ozelius LJ, Klein C (2009) Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 8:447-452.
18. Erickson ML (2003) Effects of voicing and syntactic complexity on sign expression in adductor spasmodic dysphonia. Am J Speech Lang Pathol 12:416-424.
19. Fritzell B, Feuer E, Haglund S, Knutsson E, Schiratzki H (1982) Experiences with recurrent laryngeal nerve section for spastic dysphonia. Folia Phoniat 34:160-167.
20. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ (2009) Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 41:286-288.
21. Haslinger B, Erhard P, Dresel C, Castrop F, Roettinger M, Ceballos-Baumann AO (2005) "Silent event-related" fMRI reveals reduced sensorimotor activation in laryngeal dystonia. Neurology 65:1562-1569.
22. Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP (2010) THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 74:846-850.
23. Jürgens U (2002a) Neural pathways underlying vocal control. Neurosci Biobehav Rev 26:235-258.
24. Jürgens U (2002b) A study of the central control of vocalization using the squirrel monkey. Med Eng Phys 24:473-477.
25. Kuypers HG (1958) Cortico-bulbar connexions to the pons and lower brainstem in man. An anatomical study. Brain 81:364-388.
26. Larson CR, Burnett TA, Kiran S, Hain TC (2000) Effects of pitch-shift velocity on voice Fo responses. J Acoust Soc Am 107:559-564.
27. Loucks TM, Poletto CJ, Simonyan K, Reynolds CL, Ludlow CL (2007) Human brain activation during phonation and exhalation: common volitional control for two upper airway functions. Neuroimage 36:131-143.
28. Ludlow CL, Adler CH, Berke GS, Bielamowicz SA, Blitzer A, Bressman SB, Hallett M, Jinnah HA, Juergens U, Martin SB, Perlmutter JS, Sapienza C, Singleton A, Tanner CM, Woodson GE (2008) Research priorities in spasmodic dysphonia. Otolaryngol Head Neck Surg 139:495-505.
29. MacNeilage PF (1998) The frame/content theory of evolution of speech production. Behav Brain Sci 21:499-511.
30. Moreno-López B, Pastor AM, de la Cruz RR, Delgado-García JM (1997) Dose-dependent, central effects of botulinum neurotoxin type A: a pilot study in the alert behaving cat. Neurology 48:456-464.
31. Nash EA, Ludlow CL (1996) Laryngeal muscle activity during speech breaks in adductor spasmodic dysphonia. Laryngoscope 106:484-489.
32. Netterville JL, Stone RE, Rainey C, Zealear DL, Ossoff RH (1991) Recurrent laryngeal nerve avulsion for treatment of spastic dysphonia. Ann Otol Rhinol Laryngol 100:10-14.
33. Nutt JG, Muenter MD, Aronson A, Kurland LT, Melton LJ 3rd (1988) Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 3:188-194.
34. Ozelius LJ, Bressman SB (2010) THAP1: role in focal dystonia? Neurology 74:192-193.
35. Paniello RC, Barlow J, Serna JS (2008) Longitudinal follow-up of adductor spasmodic dysphonia patients after botulinum toxin injection: quality of life results. Laryngoscope 118:564-568. (Pubitemid 351640641)
36. Parnes SM, Lavorato AS, Myers EN (1978) Study of spastic dysphonia using videofiberoptic laryngoscopy. Ann Otol Rhinol Laryngol 87:322-326.
37. Rödel RM, Olthoff A, Tergau F, Simonyan K, Kraemer D, Markus H, Kruse E (2004) Human cortical motor representation of the larynx as assessed by transcranial magnetic stimulation (TMS). Laryngoscope 114:918-922.
38. Rodriquez AA, Ford CN, Bless DM, Harmon RL (1994) Electromyographic assessment of spasmodic dysphonia patients prior to botulinum toxin injection. Electromyogr Clin Neurophysiol 34:403-407.
39. Rontal M, Rontal E, Rolnick M, Merson R, Silverman B, Truong DD (1991) A method for the treatment of abductor spasmodic dysphonia with botulinum toxin injections: a preliminary report. Laryngoscope 101:911-914.
40. Roy N, Whitchurch M, Merrill RM, Houtz D, Smith ME (2008) Differential diagnosis of adductor spasmodic dysphonia and muscle tension dysphonia using phonatory break analysis. Laryngoscope 118:2245-2253.
41. Salassa JR, DeSanto LW, Aronson AE (1982) Respiratory distress after recurrent laryngeal nerve section for spastic dysphonia. Laryngoscope 92:240-245.
42. Schulz GM, Varga M, Jeffires K, Ludlow CL, Braun AR (2005) Functional neuroanatomy of human vocalization: an H215O PET study. Cereb Cortex 15:1835-1847.
43. Schweinfurth JM, Billante M, Courey MS (2002) Risk factors and demographics in patients with spasmodic dysphonia. Laryngoscope 112:220-223.
44. Shipp T, Izdebski K, Reed C, Morrissey P (1985) Intrinsic laryngeal muscle activity in a spastic dysphonic patient. J Speech Hear Disord 50:54-59. (Pubitemid 15141722)
45. Simonyan K, Ludlow CL (2010) Abnormal activation of the primary somatosensory cortex in spasmodic dysphonia: an fMRI study. Cereb Cortex 20:2749-2759.
46. Simonyan K, Tovar-Moll F, Ostuni J, Hallett M, Kalasinsky VF, Lewin-Smith MR, Rushing EJ, Vortmeyer AO, Ludlow CL (2008) Focal white matter changes in spasmodic dysphonia: a combined diffusion tensor imaging and neuropathological study. Brain 131:447-459.
47. Simonyan K, Ostuni J, Ludlow CL, Horwitz B (2009) Functional but not structural networks of the human laryngeal motor cortex show left hemispheric lateralization during syllable but not breathing production. J Neurosci 29:14912-14923.
48. Simonyan K, Ludlow CL, Vortmeyer AO (2010) Brainstem pathology in spasmodic dysphonia. Laryngoscope 120:121-124.
49. Tamiya G (2009) Transcriptional dysregulation: a cause of dystonia? Lancet Neurol 8:416-418.
50. Vihman MM, de Boysson-Bardies B (1994) The nature and origins of ambient language influence on infant vocal production and early words. Phonetica 51:159-169.
51. Weed DT, Jewett BS, Rainey C, Zealear DL, Stone RE, Ossoff RH, Netterville JL (1996) Long-term follow-up of recurrent laryngeal nerve avulsion for the treatment of spastic dysphonia. Ann Otol Rhinol Laryngol 105:592-601.
52. Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS (2010) Novel THAP1 sequence variants in primary dystonia. Neurology 74: 229-238.