Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

Cerebellum

Volumn 7, Issue 2, 2008, Pages 184-188

  Mariotti, Caterina ^a   Brusco, Alfredo ^b   Di Bella, Daniela ^a   Cagnoli, Claudia ^b   Seri, Marco ^c   Gellera, Cinzia ^a   Di Donato, Stefano ^a   Taroni, Franco ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Autosomal dominant cerebellar ataxia; Oculomotor abnormalities; SCA28; Spinocerebellar ataxia

Indexed keywords

AMINO ACID; GENOMIC DNA; GLUTAMIC ACID; LYSINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 18P; CLINICAL ARTICLE; DISEASE COURSE; DYSARTHRIA; FAMILY ASSESSMENT; FEMALE; GAIT; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; HYPERREFLEXIA; MALE; MISSENSE MUTATION; MOLECULAR EVOLUTION; MOLECULAR RECOGNITION; MUTATIONAL ANALYSIS; NYSTAGMUS; ONSET AGE; OPHTHALMOPLEGIA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; SPINOCEREBELLAR DEGENERATION; ADOLESCENT; AGED; BRAIN; CHILD; CHROMOSOME 18; CHROMOSOME MAP; DOMINANT GENE; GENETICS; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; BRAIN; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; GENES, DOMINANT; GLUTAMIC ACID; HUMANS; LYSINE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; OPHTHALMOPLEGIA; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 65849086684     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-008-0053-9     Document Type: Article

References (14)

1. C Mariotti R Fancellu S Di Donato 2005 An overview of the patient with ataxia J Neurol. 252 511 518
2. L Schöls P Bauer T Schmidt T Schulte O Riess 2004 Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis Lancet Neurol. 3 291 304
3. F Taroni S Di Donato 2004 Pathways to motor incoordination: The inherited ataxias Nat Rev Neurosci. 5 641 655
4. HT Orr M Chung S Banfi TJ Kwiatkowski Jr A Servadio AL Beaudet 1993 Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 Nat Genet. 4 221 226
5. AM Dueñas R Goold P Giunti 2006 Molecular pathogenesis of spinocerebellar ataxias Brain 129 1357 1370
6. MA Knight RJ Gardner M Bahlo T Matsuura JA Dixon SM Forrest E Storey 2004 Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20 Brain 127 1172 1181
7. G-Y Yu MJ Howell MJ Roller T-D Xie CM Gomez 2005 Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6 Ann Neurol. 57 349 354
8. Y Ikeda KA Dick MR Weatherspoon D Gincel KR Armbrust JC Dalton 2006 Spectrin mutations cause spinocerebellar ataxia type 5 Nat Genet. 38 184 190
9. K Ishikawa S Toru T Tsunemi M Li K Kobayashi T Yokota 2005 An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a singlenucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and rho Guanine-nucleotide exchange-factor domains Am J Hum Genet. 77 280 296
10. A Brusco C Gellera C Cagnoli A Saluto A Castucci C Michielotto 2004 Molecular genetics of hereditary spinocerebellar ataxia. Mutational analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families Arch Neurol. 61 727 733
11. M Schalling TJ Hudson KH Buetow DE Housman 1993 Direct detection of novel expanded trinucleotide repeats in the human genome Nat Genet. 4 135 139
12. C Cagnoli C Mariotti F Taroni M Seri A Brussino C Michielotto 2006 SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 Brain 129 235 242
13. M Zeviani S Di Donato 2004 Mitochondrial disorders Brain 127 2153 2172
14. N Tiffin JF Kelso AR Powell H Pan VB Bajic WA Hide 2005 Integration of text- and data-mining using ontologies successfully selects disease gene candidates Nucleic Acids Res. 33 1544 1552