Genetics in dystonia: An update topical collection on movement disorders

Current Neurology and Neuroscience Reports

Volumn 13, Issue 12, 2013, Pages

  Fuchs, Tania ^a   Ozelius, Laurie J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

ANO3; CIZ1; Dystonia; Exome; Genetics; GNAL; Next generation sequencing; Phenotypic spectrum; TUBB4A

Indexed keywords

ANO3 GENE; ARTICLE; ATP1A3 GENE; CIZ1 GENE; DNA SEQUENCE; EXOME; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GNAL GENE; HETEROZYGOSITY; HUMAN; PATHOGENESIS; PHENOTYPE; PRIMARY TORSION DYSTONIA; PRRK2 GENE; TORSION DYSTONIA; TUBB4A GENE; DYSTONIA; GENETIC PREDISPOSITION; GENETICS; PATHOPHYSIOLOGY; REVIEW;

DYSTONIA; EXOME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PHENOTYPE;

EID: 84890540322     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-013-0410-z     Document Type: Article

References (65)

1. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol. 1998;78:1-10.
2. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863-73.
3. Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain. 2007;130:1183-93.
4. Fuchs T, Ozelius LJ. Genetics of dystonia. Semin Neurol. 2011;31:441-8.
5. Ku CS, Cooper DN, Polychronakos C, et al. Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol. 2012;71:5-14.
6. Nutt JG, Muenter MD, Aronson A, et al. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord. 1988;3:188-94.
7. Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol. 2000;247:787-92.
8. Risch N, de Leon D, Ozelius L, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet. 1995;9:152-9.
9. Muller J, Kiechl S, Wenning GK, et al. The prevalence of primary dystonia in the general community. Neurology. 2002;59:941-3.
10. Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol. 2012;71:458-69.
11. •• Charlesworth G, Plagnol V, Holmstrom KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012;91:1041-50. This article describes a novel dystonia causative gene, ANO3, identified by exome sequencing in familial dystonia. The dystonia phenotype associated with ANO3 mutations comprises mostly a focal or segmental distribution with wide a range of onset (between early childhood and 40 years) All of the mutation carriers had dystonia involving the craniocervical region, but some also had laryngeal dystonia, blepharospasm, and/or limb tremor One mutation-positive patient was previously diagnosed with essential tremor, raising the possibility that mutations in ANO3 may also cause tremor associated with dystonia.
12. •• Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2012;45:88-92. This article describes the identification of GNAL by exome sequencing. GNAL mutations were found only in familial cases, and the associated phenotype is characterized by an average age of onset of 31.3 years, mostly focal to segmental distribution with rare generalization, onset in the neck in 82% of carriers, and prominent neck involvement (93% of carriers) at the final examination.
13. •• Hersheson J, Mencacci NE, Davis M, et al. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013;73:546-53. Exome sequencing identified TUBB4A as a dystonia causative gene for the previously described DYT4 locus. This locus and phenotype were described in a single Australian family with "whispering dysphonia" that progresses to a generalized dystonia with a characteristic "hobby horse" ataxic gait.
14. •• Lohmann K, Wilcox RA, Winkler S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol. 2013;73:537-45. Exome sequencing identified TUBB4A as a dystonia causative gene for the previously described DYT4 locus. This locus and phenotype were described in a single Australian family with "whispering dysphonia" that progresses to a generalized dystonia with a characteristic "hobby horse" ataxic gait. The mutations in TUBB4A are not expected to be responsible for a significant proportion of dystonia, since screening of the gene in 394 unrelated dystonia patients revealed only one additional putative mutation.
15. Winter P, Kamm C, Biskup S, et al. DYT7 gene locus for cervical dystonia on chromosome 18p is questionable. Mov Disord. 2012;27:1819-21.
16. Uitti RJ, Maraganore DM. Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord. 1993;8:489-94.
17. Arman PR, del Grosso N, Valente EM, et al. Primary torsion dystonia: the search for genes is not over. J Neurol Neurosurg Psychiatry. 1999;67:395-7.
18. Klein C, Konig IR, Lohmann K. Exome sequencing for gene discovery: time to set standard criteria. Ann Neurol. 2012;72:627-8.
19. Mitsui K, Matsumoto A, Ohtsuka S, et al. Cloning and characterization of a novel p21(Cip1/Waf1)-interacting zinc finger protein, ciz1. Biochem Biophys Res Commun. 1999;264:457-64.
20. Coverley D, Marr J, Ainscough J. Ciz1 promotes mammalian DNA replication. J Cell Sci. 2005;118:101-12.
21. Rahman F, Ainscough JF, Copeland N, Coverley D. Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1. Hum Mutat. 2007;28:993-1004.
22. Duran C, Qu Z, Osunkoya AO, et al. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. Am J Physiol Cell Physiol. 2012;302:C482-93.
23. Jones DT, Reed RR. Golf: an olfactory neuron specific-G protein involved in odorant signal transduction. Science. 1989;244:790-5.
24. olf in the basal ganglia. Mol Cell Neurosci. 1991;2:66-70.
25. olf in rat striatum. Mol Pharmacol. 2000;58:771-7.
26. olf is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum. J Neurochem. 2001;76:1585-8.
27. Corvol JC, Valjent E, Pascoli V, et al. Quantitative changes in Gαolf protein levels, but not D1 receptor, alter specifically acute responses to psychostimulants. Neuropsychopharmacology. 2007;32:1109-21.
28. olf are anosmic. Neuron. 1998;20:69-81.
29. olf mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia. J Neurosci. 2012;32:5900-10.
30. Corvol JC, Muriel MP, Valjent E, et al. Persistent increase in olfactory type G-protein alpha subunit levels may underlie D1 receptor functional hypersensitivity in Parkinson disease. J Neurosci. 2004;24:7007-14.
31. olf gene polymorphisms and vulnerability to bipolar disorder. Psychiatr Genet. 1998;8(4):235-8.
32. Segurado R, Detera-Wadleigh SD, Levinson DF, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: bipolar disorder. Am J Hum Genet. 2003;73:49-62.
33. olf gene (GNAL) in attention deficit/hyperactivity disorder. J Psychiatr Res. 2008;42:117-24.
34. Vemula SR, Puschmann A, Xiao J, et al. Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet. 2013;22:2510-9.
35. Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry. 1985;48:218-24.
36. Ahmad F, Davis MB, Waddy HM, et al. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics. 1993;15:9-12.
37. Wilcox RA, Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. Mov Disord. 2011;26:2404-8.
38. Mandelkow E, Mandelkow EM. Microtubules and microtubule-associated proteins. Curr Opin Cell Biol. 1995;7:72-81.
39. Yen TJ, Gay DA, Pachter JS, Cleveland DW. Autoregulated changes in stability of polyribosome-bound beta-tubulin mRNAs are specified by the first 13 translated nucleotides. Mol Cell Biol. 1988;8:1224-35.
40. Yen TJ, Machlin PS, Cleveland DW. Autoregulated instability of β-tubulin mRNAs by recognition of the nascent amino terminus of β-tubulin. Nature. 1988;334:580-5.
41. Simons C, Wolf NI, McNeil N, et al. A de Novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013;92:767-73.
42. Leube B, Rudnicki D, Ratzlaff T, et al. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet. 1996;5:1673-7.
43. +-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43:169-75.
44. Brashear A, Dobyns WB, de Carvalho Aguiar P, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007;130:828-35.
45. Brashear A, Mink JW, Hill DF, et al. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012;54:1065-7.
46. Brashear A, Cook JF, Hill DF, et al. Psychiatric disorders in rapid-onset dystonia-parkinsonism. Neurology. 2012;79:1168-73.
47. •• Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030-4. This is one of the first articles (along with [48]) to identify mutations in the ATP1A3 gene in patients with AHC. This expands the phenotypic spectrum associated with mutations in this gene beyond the original description of RDP and suggests these disorders are part of the same clinical spectrum.
48. •• Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11:764-73. This is one of the first articles (along with [47]) to identify mutations in the ATP1A3 gene in patients with AHC. This expands the phenotypic spectrum associated with mutations in this gene beyond the original description of RDP and suggests these disorders are part of the same clinical spectrum.
49. Ishii A, Saito Y, Mitsui J, et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One. 2013;8:e56120.
50. Bourgeois M, Aicardi J, Goutieres F. Alternating hemiplegia of childhood. J Pediatr. 1993;122:673-9.
51. Ozelius LJ, Lubarr N, Bressman SB. Milestones in dystonia. Mov Disord. 2011;26:1106-26.
52. Roubergue A, Roze E, Vuillaumier-Barrot S, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord. 2013;28:1457-9.
53. Ozelius LJ. Clinical spectrum of disease associated with ATP1A3 mutations. Lancet Neurol. 2012;11:741-3.
54. Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004;63:2280-7.
55. Tomita H, Nagamitsu S, Wakui K, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet. 1999;65:1688-97.
56. Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain. 2000;123:2040-5.
57. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43:1252-5.
58. Li J, Zhu X, Wang X, et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet. 2012;49:76-8.
59. Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain. 2011;134:3493-501.
60. Lee HY, Huang Y, Bruneau N, et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012;1:2-12.
61. Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 2012;79:2115-21.
62. Meneret A, Grabli D, Depienne C, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology. 2012;79:170-4.
63. Meneret A, Gaudebout C, Riant F, et al. PRRT2 mutations and paroxysmal disorders. Eur J Neurol. 2013;20:872-8.
64. Silveira-Moriyama L, Gardiner AR, Meyer E, et al. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol. 2013;55:327-34.
65. Labate A, Tarantino P, Viri M, et al. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. Epilepsia. 2012;53:e196-9.