Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

Movement Disorders

Volumn 28, Issue 7, 2013, Pages 889-898

  Fung, Victor S C ^a   Jinnah, H A ^b   Bhatia, Kailash ^c   Vidailhet, Marie ^d  

^a UNIVERSITY OF SYDNEY   (Australia)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d SORBONNE UNIVERSITÉ   (France)

Author keywords

Diagnosis; Differential diagnosis; Etiology; Phenomenology; Secondary dystonia

Indexed keywords

URIC ACID; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; BASAL GANGLION; BLOOD ANALYSIS; BLOOD CELL COUNT; BLOOD SMEAR; BRAIN ATROPHY; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID EXAMINATION; CLINICAL EVALUATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; DYSTONIA; EVOKED SOMATOSENSORY RESPONSE; FOCAL DYSTONIA; GENE MUTATION; GENERALIZED DYSTONIA; GLUCOSE TRANSPORT SYSTEM; HEARING IMPAIRMENT; HEMIDYSTONIA; HUMAN; KARYOTYPING; LESCH NYHAN SYNDROME; MEIGE SYNDROME; MOTOR DYSFUNCTION; MULTIFOCAL DYSTONIA; MYOCLONUS; NERVE CONDUCTION; NERVOUS SYSTEM FUNCTION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPHYSIOLOGY; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARKINSONISM; PAROXYSMAL KINESIGENIC DYSKINESIA; PATHOGENESIS; PATIENT ASSESSMENT; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SKIN BIOPSY; SPASTICITY; SYNDROME DELINEATION; SYSTEMIC DISEASE; WILSON DISEASE;

EID: 84880829090     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25549     Document Type: Review

References (75)

1. Fung VSC, Morris J. Parkinson's disease and other movement disorders. In: Warlow CP, ed. The Lancet Handbook of Treatment in Neurology. London, United Kingdom: Elsevier; 2006:127-160.
2. Abdo WF, van de Warrenburg BP, Burn DJ, Quinn NP, Bloem BR. The clinical approach to movement disorders. Nat Rev Neurol 2010;6:29-37.
3. Marsden CD. Investigation of dystonia. Adv Neurol 1988;50:35-44.
4. Calne DB, Lang AE. Secondary dystonia. Adv Neurol 1988;50:9-33.
5. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863-873.
6. Frucht SJ. The definition of dystonia-consensus or controversy? Mov Disord 2013;28:883-888.
7. Schneider SA, Bhatia KP. Secondary dystonia-clinical clues and syndromic associations. Eur J Neurol 2010;17(suppl 1):52-57.
8. Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis 2008;31:308-318.
9. Marsden CD. Dystonia: the spectrum of the disease. Res Publ Assoc Res Nerv Ment Dis 1976;55:351-367.
10. Jedynak CP, Bonnet AM, Agid Y. Tremor and idiopathic dystonia. Mov Disord 1991;6:230-236.
11. Morris JG, Grattan-Smith P, Jankelowitz SK, Fung VS, Clouston PD, Hayes MW. Athetosis II: the syndrome of mild athetoid cerebral palsy. Mov Disord 2002;17:1281-1287.
12. Morris JG, Jankelowitz SK, Fung VS, Clouston PD, Hayes MW, Grattan-Smith P. Athetosis I: historical considerations. Mov Disord 2002;17:1278-1280.
13. Lanska DJ. Early controversies over athetosis. I. Clinical features, differentiation from other movement disorders, associated conditions, and pathology [serial online]. Tremor Other Hyperkinet Mov (NY) 2013;3.
14. Furukawa Y. GTP cyclohydrolase 1-deficient dopa-responsive dystonia. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews [publication online]. Seattle, WA: University of Washington; 2002.
15. Sanger TD, Chen D, Fehlings DL, et al. Definition and classification of hyperkinetic movements in childhood. Mov Disord 2010;25:1538-1549.
16. Walshe JM. The pattern of urinary copper excretion and its response to treatment in patients with Wilson's disease. QJM 2011;104:775-778.
17. Machado A, Chien HF, Deguti MM, et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov Disord 2006;21:2192-2196.
18. Sohtaoglu M, Ergin H, Ozekmekci S, Gokdemir S, Sonsuz A, Arici C. Patient with late-onset Wilson's disease: deterioration with penicillamine. Mov Disord 2007;22:290-291.
19. Czlonkowska A, Rodo M, Gromadzka G. Late onset Wilson's disease: therapeutic implications. Mov Disord 2008;23:896-898.
20. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007;369:397-408.
21. Prashanth LK, Sinha S, Taly AB, Vasudev MK. Do MRI features distinguish Wilson's disease from other early onset extrapyramidal disorders? An analysis of 100 cases. Mov Disord 2010;25:672-678.
22. Risvoll H, Kerty E. To test or not? The value of diagnostic tests in cervical dystonia. Mov Disord 2001;16:286-289.
23. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40.
24. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006;129(pt 5):1201-1217.
25. Schneider SA, Aggarwal A, Bhatt M, et al. Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology 2006;67:940-943.
26. Bader B, Walker RH, Vogel M, Prosiegel M, McIntosh J, Danek A. Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. Mov Disord 2010;25:127-129.
27. McKeon A, Matsumoto JY, Bower JH, Ahlskog JE. The spectrum of disorders presenting as adult-onset focal lower extremity dystonia. Parkinsonism Relat Disord 2008;14:613-619.
28. Schneider SA, Edwards MJ, Grill SE, et al. Adult-onset primary lower limb dystonia. Mov Disord 2006;21:767-771.
29. Kalita J, Misra UK. Markedly severe dystonia in Japanese encephalitis. Mov Disord 2000;15:1168-1172.
30. Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 2011;10:721-733.
31. Trender-Gerhard I, Sweeney MG, Schwingenschuh P, et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry 2009;80:839-845.
32. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003;54(suppl 6):S32-S45.
33. Tadic V, Kasten M, Bruggemann N, Stiller S, Hagenah J, Klein C. Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol 2012;17:1-5.
34. Pons R. The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism. J Inherit Metab Dis 2009;32:321-332.
35. Hyland K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol 2003;54(suppl 6):S13-S17.
36. Wickremaratchi MM, Knipe MD, Sastry BS, et al. The motor phenotype of Parkinson's disease in relation to age at onset. Mov Disord 2011;26:457-463.
37. Davison C. Pallido-pyramidal disease. J Neuropathol Exp Neurol 1954;13:50-59.
38. Paisan-Ruiz C, Guevara R, Federoff M, et al. Early-onset l-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 2010;25:1791-1800.
39. Horstink MW, Dekker MC, Montagna P, Bonifati V, van De Warrenburg BP. Pallidopyramidal disease: a misnomer? Mov Disord 2010;25:1109-1115.
40. Lyon G, Kolodny EH, Pastores GM. Neurology of Hereditary Metabolic Diseases of Children. 3rd ed. New York: McGraw-Hill; 2006.
41. Burke RE, Fahn S, Gold AP. Delayed-onset dystonia in patients with "static" encephalopathy. J Neurol Neurosurg Psychiatry 1980;43:789-797.
42. Neychev VK, Gross RE, Lehericy S, Hess EJ, Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis 2011;42:185-201.
43. van Gaalen J, Giunti P, van de Warrenburg BP. Movement disorders in spinocerebellar ataxias. Mov Disord 2011;26:792-800.
44. Sethi KD, Jankovic J. Dystonia in spinocerebellar ataxia type 6. Mov Disord 2002;17:150-153.
45. Hagenah JM, Zuhlke C, Hellenbroich Y, Heide W, Klein C. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov Disord 2004;19:217-220.
46. Saunders-Pullman R, Raymond D, Stoessl AJ, et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 2012;78:649-657.
47. Roubertie A, Biolsi B, Rivier F, Humbertclaude V, Cheminal R, Echenne B. Ataxia with vitamin E deficiency and severe dystonia: report of a case. Brain Dev 2003;25:442-445.
48. Obeso JA, Rothwell JC, Lang AE, Marsden CD. Myoclonic dystonia. Neurology 1983;33:825-830.
49. Quinn NP Marsden CD. Dominantly inherited myoclonic dystonia with dramatic response to alcohol [abstract]. Neurology 1984;34(suppl 1):236.
50. Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996;11:119-124.
51. Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;78:325-334.
52. 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.
53. Stamelou M, Mencacci NE, Cordivari C, et al. Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology 2012;79:435-441.
54. Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977;2:285-293.
55. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-579.
56. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255.
57. Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134(pt 12):3493-3501.
58. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008;131(pt 7):1831-1844.
59. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clinical Invest 2008;118:2157-2168.
60. Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004;13:3161-3170.
61. Blakeley J, Jankovic J. Secondary paroxysmal dyskinesias. Mov Disord 2002;17:726-734.
62. Tranebjaerg L, Schwartz C, Eriksen H, et al. A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995;32:257-263.
63. Ha AD, Parratt KL, Rendtorff ND, et al. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord 2012;27:1034-1040.
64. Swerdlow RH, Wooten GF. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann Neurol 2001;50:537-540.
65. Al-Semari A, Bohlega S. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. Am J Med Genet 2007;143(2 pt A):149-160.
66. Schneider SA, Bhatia KP. Dystonia in the Woodhouse Sakati syndrome: a new family and literature review. Mov Disord 2008;23:592-596.
67. Kojovic M, Parees I, Lampreia T, et al. The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord 2013;28:795-803.
68. Sethi KD, Adams RJ, Loring DW, el Gammal T. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol 1988;24:692-694.
69. Schneider SA, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation. Semin Pediatr Neurol 2012;19:57-66.
70. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012;33:407-414.
71. Finelli PF, DiMario FJ Jr. Diagnostic approach in patients with symmetric imaging lesions of the deep gray nuclei. Neurologist 2003;9:250-261.
72. Kim TJ, Kim IO, Kim WS, et al. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. AJNR Am J Neuroradiol 2006;27:1373-1378.
73. Tabarki B, Al-Shafi S, Al-Shahwan S, et al. Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology 2013;80:261-267.
74. Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998;121(pt 7):1267-1279.
75. Dale RC, Grattan-Smith P, Nicholson M, Peters GB. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol 2012;54:618-623.