CAG repeat expansion in an Italian family with spinocerebellar ataxia type 2 (SCA2): A clinical and genetic study

European Neurology

Volumn 40, Issue 3, 1998, Pages 164-168

  Malandrini, Alessandro ^a,c   Galli, Lucia ^b   Villanova, Marcello ^a   Palmeri, Silvia ^a   Parrotta, Emma ^a   DeFalco, Danilo ^c   Cappelli, Michela ^b   Grieco, Gaetano Salvatore ^a   Renieri, Alessandra ^b   Guazzi, Giancarlo ^a  

^a Institute of Neurological Sciences

^b Department of Molecular Biology

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

CAG repeat; Clinical phenotype; SCA2

Indexed keywords

ADULT; ARTICLE; ATAXIA; CLINICAL ARTICLE; FAMILY; FEMALE; GENE EXPRESSION; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; MENTAL DETERIORATION; NERVE BIOPSY; NUCLEOTIDE REPEAT; ONSET AGE; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SPINOCEREBELLAR TRACT;

ADULT; BIOPSY; BRAIN; DINUCLEOTIDE REPEATS; FEMALE; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR DEGENERATIONS; SURAL NERVE;

EID: 17744414905     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000007974     Document Type: Article

References (17)

1. Rosenberg RN: Autosomal dominant cerebellar phenotypes: The genotype has settled the issue. Neurology 1995;45:1-5.
2. Orr HT, Chung MY, Banfi S, et al: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4: 221-226.
3. Imbert G, Saudou F, Yvert G, et al: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/ glutamine repeats. Nat Genet 1996;14:285-291.
4. Pulst S-M, Nechiporuk A, Nichiporuk T, et al: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:276-277.
5. Sanpei K, Takano H, Igarashi S, et al: Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
6. Kawaguchi Y, Okamoto T, Taniwaki M, et al: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
7. Zhuchenko O, Bailey J, Bonnen P, et al: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15(1):62-69.
8. David G, Abbas N, Stevanin G, et al: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17: 65-70.
9. Orozco Diaz G, Nadarse Fleites A, Cordovés Sagaz R, Auburger G: Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990;40:1369-1375.
10. Filla A, De Michele G, Banfi S, Santoro L, Perretti A, Cavalcanti F, Pianese L, Castaldo I, Barbieri F, Campanella G, Cocozza S: Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995;45:793-796.
11. Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, Ragno M, Calabrese O, Castaldo I, De Joanna G, Cocozza S: Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes. J Neurol Sci 1996;142:140-147.
12. Sasaki H, Fukazawa T, Wakisaka A, Hamada K, Koyama T, Tsuji S, Tashiro K: Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): A clinical and genetic study with a pedigree in the Japanese. J Neurol Sci 1996;144:176-181.
13. Cancel G, Dürr A, Didierjean O, et al: Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families. Hum Mol Genet 1997;6:709-715.
14. Schols L, Gispert S, Vorgerd M, et al: Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol 1997;54: 1073-1080.
15. Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM: The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-850.
16. Adams C, Starkman S, Pulst SM: Clinical and molecular analysis of a pedigree of southern Italian ancestry with spinocerebellar ataxia type 2. Neurology 1997;49:1163-1166.
17. Lorenzetti D, Bohlega S, Zoghbi HY: The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 1997;49:1009-1013.