Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

Movement Disorders

Volumn 31, Issue 4, 2016, Pages 471-477

  Domingo, Aloysius ^a   Erro, Roberto ^b,c   Lohmann, Katja ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

Calcium homeostasis; Disease mechanism; Dystonia; Neurodevelopment; Next generation sequencing

Indexed keywords

CALCIUM;

ALLELE; ANO3 GENE; CACNA1A GENE; CACNA1B GENE; CALCIUM HOMEOSTASIS; CALCIUM SIGNALING; COL6A3 GENE; DYSTONIA; GCH1 GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HPCA GENE; HUMAN; KCTD17 GENE; NONHUMAN; PATHOGENESIS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RELN GENE; REVIEW; SPR GENE; TH GENE; TUBB4A GENE; ZEBRA FISH; DYSTONIC DISORDER; GENETICS; PROCEDURES; SEQUENCE ANALYSIS;

DYSTONIC DISORDERS; HUMANS; SEQUENCE ANALYSIS;

EID: 84962488952     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26600     Document Type: Review

References (43)

1. Chong JX, Buckingham KJ, Jhangiani SN, et al. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet 2015;97:199-215.
2. Goodchild RE, Grundmann K, Pisani A. New genetic insights highlight "old" ideas on motor dysfunction in dystonia. Trends Neurosci 2013;36:717-725.
3. Charlesworth G, Angelova PR, Bartolome-Robledo F, et al. Mutations in HPCA cause autosomal-recessive primary isolated dystonia. Am J Hum Genet 2015;96:657-665.
4. Zech M, Lam DD, Francescatto L, et al. Recessive mutations in the alpha3 (VI) Collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet 2015;96:883-893.
5. Thompson V, Jinnah HA, Hess E. Convergent mechanisms in etiologically-diverse dystonias. Expert Opin Ther Targers 2011;15:1387-1403.
6. Niethammer M, Carbon M, Argyelan M, Eidelberg D. Hereditary dystonia as a neurodevelopmental circuit disorder: evidence from neuroimaging. Neurobiol Dis 2011;42:202-209.
7. Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013;28:968-981.
8. Khan NL, Wood NW, Bhatia KP. Autosomal recessive, DYT2-like primary torsion dystonia: a new family. Neurology 2003;61:1801-1803.
9. Mencacci NE, Rubio-Agusti I, Zdebik A, et al. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet 2015;96:938-947.
10. Charlesworth G, Plagnol V, Holmström KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012;91:1041-1050.
11. Ma LY, Wang L, Yang YM, et al. Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families. Mov Disord 2015;30:743-744.
12. Groen JL, Andrade A, Ritz K, et al. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet 2015;24:987-993.
13. Mencacci NE, R'bibo L, Bandres-Ciga S, et al. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet 2015;24:5326-5329.
14. Neychev VK, Gross RE, Lehericy S, et al. The functional neuroanatomy of dystonia. Neurobiol Dis 2011;42:185-201.
15. Raike RS, Jinnah H a, Hess EJ. Animal models of generalized dystonia. NeuroRx 2005;2:504-512.
16. Iwabuchi S, Kakazu Y, Koh JY, Harata NC. Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model. Neurosci Lett 2013;548:61-66.
17. Sciamanna G, Tassone A, Martella G, et al. Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia. PLoS One 2011;6:e24261.
18. Iwabuchi S, Koh JY, Wang K, Ho KW, Harata NC. Minimal Change in the cytoplasmic calcium dynamics in striatal GABAergic neurons of a DYT1dystonia knock-in mouse model. PLoS One. 2013;19;8(11):e80793.
19. Spacey S, Materek L, Szczygielski B, Bird T. TWo novel cacna1a gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 2005;62:314-316.
20. Wang C, Li Y, Shi L, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012;44:254-256.
21. Erro R, Sheerin UM, Bhatia KP. Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord 2014;29:1108-1116.
22. Braubach P, Orynbayev M, Andronache Z, et al. Altered Ca(2+) signaling in skeletal muscle fibers of the R6/2 mouse, a model of Huntington's disease. J Gen Physiol 2014;144:393-413.
23. Surmeier DJ, Guzman JN, Sanchez-Padilla J, Schumacker PT. The role of calcium and mitochondrial oxidant stress in the loss of substantia nigra pars compacta dopaminergic neurons in Parkinson's disease. Neuroscience 2011;198:221-231.
24. Dragicevic E, Poetschke C, Duda J, et al. Cav1.3 channels control D2-autoreceptor responses via NCS-1 in substantia nigra dopamine neurons. Brain 2014;137(Pt 8):2287-2302.
25. Kang S, Cooper G, Dunne SF, et al. CaV1.3-selective L-type calcium channel antagonists as potential new therapeutics for Parkinson's disease. Nat Commun 2012;3:1146.
26. Kancheva D, Chamova T, Guergueltcheva V, et al. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord 2015;30:854-858.
27. Demir E, Sabatelli P, Allamand V, et al. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002;70:1446-1458.
28. Fox MA, Sanes JR, Borza DB, et al. Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals. Cell 2007;129:179-193.
29. Groen JL, Ritz K, Jalalzadeh H, et al. RELN rare variants in myoclonus-dystonia. Mov. Disord 2015;30:415-419.
30. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis 2010;38:154-166.
31. Carapito R, Paul N, Untrau M, et al. A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord 2015;30:423-427.
32. Mencacci NE, Erro R, Wiethoff S, et al. ADCY5 mutations are another cause of benign hereditary chorea. Neurology 2015;85:80-88.
33. Breakefield XO, Blood AJ, Li Y, et al. The pathophysiological basis of dystonias. Nat Rev Neurosci 2008;9:222-234.
34. Zhao Y, Xiao J, Gong S, et al. Neural expression of the transcription factor THAP1 during development in rat. Neuroscience 2013;231:282-295.
35. Vasudevan A, Breakefield XO, Bhide PG. Developmental patterns of torsinA and torsinB expression. Brain Res 2006;1073-1074:139-145.
36. Domingo A, Westenberger A, Lee L V, et al. New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). Eur J Hum Genet 2015;23:1334-1340.
37. Jambaldorj J, Makino S, Munkhbat B, Tamiya G. Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice. Biochem Biophys Res Commun 2012;425:273-277.
38. O'Rawe JA, Wu Y, Dörfel MJ, et al. TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations. Am J Hum Genet 2015;97:922-932.
39. Vanni V, Puglisi F, Bonsi P, et al. Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia. Exp Neurol 2015;271:457-467.
40. Lohmann K, Klein C. In: Rosenberg R, Pascual J, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Amsterdam: Elsevier, Academic Press; 2015;74:849-860.
41. Erro R, Hersheson J, Ganos C, et al. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord 2015;30:828-833.
42. Lohmann K, Klein C. Genetics of dystonia: what's known? What's new? What's next? Mov Disord 2013;28:899-905.
43. Kaiser FJ, Osmanoric A, Rakovic A, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010;68:554-559.