Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients

Movement Disorders

Volumn 21, Issue 2, 2006, Pages 187-191

  Dragašević, Nataša T ^a   Čuljković, Biljana ^b   Klein, Christine ^c   Ristić, Aleksandar ^a   Keckarević, Milica ^b   Topisirović, Ivan ^b   Vukosavić, Slobodanka ^b   Svetel, Marina ^a   Kock, Norman ^c   Stefanova, Elka ^a   Romac, Stanka ^b   Kostić, Vladimir S ^a  

^a Institute of Neurology Clinical Centre of Serbia   (Yugoslavia)

^b UNIVERSITY OF BELGRADE   (Serbia)

^c UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Autosomal dominant cerebellar ataxia; SCA1; SCA2

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CONTROLLED STUDY; ETHNOLOGY; FOUNDER EFFECT; FREQUENCY ANALYSIS; FRIEDREICH ATAXIA; GENE FREQUENCY; GENETIC ANALYSIS; HEREDITY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; ONSET AGE; PEDIGREE ANALYSIS; PREVALENCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SPINOCEREBELLAR DEGENERATION; YUGOSLAVIA;

ADULT; AGED; CHROMOSOME ABERRATIONS; CROSS-SECTIONAL STUDIES; ETHNIC GROUPS; FEMALE; FOUNDER EFFECT; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; NEUROLOGIC EXAMINATION; SPINOCEREBELLAR ATAXIAS; YUGOSLAVIA;

EID: 33644957852     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20687     Document Type: Article

References (31)

1. Harding AE. Classification of hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.
2. Margolis RL. The spinocerebellar ataxias: order emerges from chaos. Curr Neurol Neurosci Rep 2002;2:447-456.
3. Schols L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304.
4. Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003; 72:839-849.
5. Knight MA, Gardner RJ, Bahlo M, et al. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 2004;127:1172-1181.
6. Stevanin G, Bouslam N, Thobois S, et al. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol 2004;55:97-104.
7. Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 2000;8:4-18.
8. Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA 12. Nat Genet 1999;23:391-392.
9. Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-384.
10. Filla A, Mariotti C, Caruso G, et al. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. Eur Neurol 2000;44:31-36.
11. Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000;26:191-194.
12. Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001;10:1441-1448.
13. Campuzano V, Montermini L, Motto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
14. Topisirović I, Dragašević N, Savić D, et al. Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia. Clin Genet 2002;62:321-324.
15. Bryer A, Krause A, Bill P, et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci 2003;216:47-54.
16. Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutational analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004;61:727-733.
17. Kameya T, Abe K, Aoki M, et al. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology 1995;45:1587-1594.
18. Onodera Y, Aoki M, Tsuda T, et al. High prevalence of spinocerebellar ataxia type (SCA1) in an isolated region of Japan. J Neurol Sci 2000;178:153-158.
19. Illarioshkin SN, Slominsky PA, Ovchinnikov IV, et al. Spinocerebellar ataxia type 1 in Russia. J Neurol 1996;243:506-510.
20. Sinha KK, Worth PF, Jha DK, et al. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. J Neurol Neurosurg Psychiatry 2004;75:448-452.
21. Leggo J, Dalton A, Morrison PJ, et al. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubralpallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet 1997;34:982-985.
22. Schols L, Amoiridis G, Buttner T, et al. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997;42:924-932.
23. Pujana MA, Corral J, Gratacos M, et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet 1999;104:516-522.
24. Moseley ML, Benzow KA, Schut LJ, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998;51:1666-1671.
25. Jin DK, Oh MR, Song SM, et al. Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubralpallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J Neurol 1999;246:207-210.
26. Burk K, Abele M, Fetter M, et al. Aurosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996; 119:1497-1505.
27. Tang B, Liu C, Shen L, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 2000;57:540-544.
28. Futamura N, Matsumura R, Fujimoto Y, et al. CAG repeat expansions in patients with sporadic cerebellar ataxia. Acta Neurol Scand 1998;98:55-59.
29. Schols L, Szymanski S, Peters S, et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 2000; 107:132-137.
30. Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich's ataxia. Am J Hum Genet 1996;59:554-560.
31. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335: 1169-1175.