The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

Movement Disorders

Volumn 28, Issue 6, 2013, Pages 795-803

  Kojovic, Maja ^a,b   Pareés, Isabel ^a   Lampreia, Tania ^a,c   Pienczk Reclawowicz, Karolina ^d   Xiromerisiou, Georgia ^e,f   Rubio Agusti, Ignacio ^a,g   Kramberger, Milica ^b   Carecchio, Miryam ^a,h   Alazami, Anas M ⁱ   Brancati, Francesco ^j,k   Slawek, Jaroslaw ^d   Pirtosek, Zvezdan ^b   Valente, Enza Maria ^j,l   Alkuraya, Fowzan S ^i,m,n   Edwards, Mark J ^a   Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF LJUBLJANA   (Slovenia)

^c HOSPITAL EGAS MONIZ   (Portugal)

^d MEDICAL UNIVERSITY OF GDANSK   (Poland)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f PAPAGEORGIOU GENERAL HOSPITAL   (Greece)

^g HOSPITAL UNIVERSITARIO LA FE   (Spain)

^h UNIVERSITY OF EASTERN PIEDMONT   (Italy)

ⁱ KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^j CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^k UNIVERSITY OF CHIETI   (Italy)

^l UNIVERSITY OF MESSINA   (Italy)

^m KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

ⁿ ALFAISAL UNIVERSITY   (Saudi Arabia)

more..

Author keywords

Deafness dystonia syndrome; Mitochondrial disorders; Mohr Tranebjaerg syndrome; Woodhouse Sakati syndrome

Indexed keywords

CARRIER PROTEIN; TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8 HOMOLOG A; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHROMOSOME 2; CHROMOSOME 7Q; CLINICAL ARTICLE; CLINICAL FEATURE; DEAFNESS DYSTONIA SYNDROME; DYSTONIA; FAMILY HISTORY; FEMALE; GENE DELETION; GENERALIZED DYSTONIA; GENETIC HETEROGENEITY; HEARING IMPAIRMENT; HUMAN; HYPOXIC ISCHEMIC ENCEPHALOPATHY; MALE; MENINGOENCEPHALITIS; METHYLMALONIC ACIDURIA; ONSET AGE; OPEN READING FRAME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEGMENTAL DYSTONIA; SPASMODIC DYSPHONIA;

ADOLESCENT; ADULT; AGE OF ONSET; APOPTOSIS REGULATORY PROTEINS; DEAF-BLIND DISORDERS; DISEASE PROGRESSION; DNA-BINDING PROTEINS; DYSTONIA; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; GENETIC TESTING; HUMANS; INTELLECTUAL DISABILITY; LEVIVIRIDAE; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; OPTIC ATROPHY; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84879604371     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25394     Document Type: Article

References (32)

1. 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.
2. Jin H, May M, Tranebjaerg L, et al. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 1996;14:177-180.
3. Alazami AM, Al-Saif A, Al-Semari A, et al. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 2008;83:684-691.
4. Alazami AM, Schneider SA, Bonneau D, et al. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clin Genet 2010;78:585-590.
5. Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007;130(pt 3):862-874.
6. Wortmann S, Rodenburg RJ, Huizing M, et al. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab 2006;88:47-52.
7. Borg E. Perinatal asphyxia, hypoxia, ischemia and hearing loss. An overview. Scand Audiol 1997;26:77-91.
8. Jiang ZD. Long-term effect of perinatal and postnatal asphyxia on developing human auditory brainstem responses: peripheral hearing loss. Int J Pediatr Otorhinolaryngol 1995;33:225-238.
9. Gerrard J. Kernicterus. Brain 1952;75:526-570.
10. Rantala H, Uhari M, Saukkonen A, Sorri M. Outcome after childhood encephalitis. Dev Med Child Neurol 1991;33:858-867.
11. Ha AD, Parratt KL, Rendtorff ND, et al. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord 2012;27:1034-1040.
12. Schneider SA, Bhatia KP. Dystonia in the Woodhouse Sakati syndrome: a new family and literature review. Mov Disord 2008;23:592-596.
13. Kim HT, Edwards MJ, Tyson J, Quinn NP, Bitner-Glindzicz M, Bhatia KP. Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. Mov Disord 2007;22:1328-1331.
14. Clark JG. Uses and abuses of hearing loss classification. ASHA 1981;23:493-500.
15. Houlden H, Schneider SA, Paudel R, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010;74:846-850.
16. Sudarsky L, Plotkin GM, Logigian EL, Johns DR. Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation. Mov Disord 1999;14:488-491.
17. Gal A, Pentelenyi K, Remenyi V, et al. Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNA(Lys) associated with dystonia and stroke-like episodes. Acta Neurol Scand 2010;122:252-256.
18. Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008;31:350-360.
19. Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency. Am J Med Genet 1993;45:619-624.
20. Tsai AC, Morel CF, Scharer G, et al. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet A 2007;143A:2430-2434.
21. Kaplan P, Ficicioglu C, Mazur AT, Palmieri MJ, Berry GT. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. Mol Genet Metab 2006;88:322-326.
22. Morava E, Steuerwald U, Carrozzo R, et al. Dystonia and deafness due to SUCLA2 defect; clinical course and biochemical markers in 16 children. Mitochondrion 2009;9:438-442.
23. Wortmann SB, Vaz FM, Gardeitchik T, et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 2012;44:797-802.
24. Asmus F, Hjermind LE, Dupont E, et al. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 2007;130(pt 10):2736-2745.
25. Bonnet C, Gregoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P. Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. J Hum Genet 2008;53:876-885.
26. Prasad R, Verma N, Srivastava A, Das BK, Mishra OP. Magnetic resonance imaging, risk factors and co-morbidities in children with cerebral palsy. J Neurol 2011;258:471-478.
27. Thewissen V, Myin-Germeys I, Bentall R, de Graaf R, Vollebergh W, van Os J. Hearing impairment and psychosis revisited. Schizophr Res 2005;76:99-103.
28. Stefanis N, Thewissen V, Bakoula C, van Os J, Myin-Germeys I. Hearing impairment and psychosis: a replication in a cohort of young adults. Schizophr Res 2006;85(1-3):266-272.
29. Bressman SB. Dystonia genotypes, phenotypes, and classification. Adv Neurol 2004;94:101-107.
30. Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-1752.
31. Stevens G, Flaxman S, Brunskill E, et al. Global and regional hearing impairment prevalence: an analysis of 42 studies in 29 countries [published online ahead of print 24 December 2011]. Eur J Public Health 2011.
32. Muller J, Kiechl S, Wenning GK, et al. The prevalence of primary dystonia in the general community. Neurology 2002;59:941-943.