Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles

European Journal of Human Genetics

Volumn 10, Issue 3, 2002, Pages 204-209

  Zühlke, Christine ^a   Dalski, Andreas ^a   Hellenbroich, Yorck ^a   Bubel, Stefanie ^a   Schwinger, Eberhard ^a   Bürk, Katrin ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Intermediate allele; Interruption; Repeat expansion; SCA1

Indexed keywords

ADENINE NUCLEOTIDE; CYTOSINE; GUANINE NUCLEOTIDE; THYMINE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; GENETIC CODE; GENETIC STABILITY; GENOTYPE; HUMAN; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRAMIDAL TRACT; SPINOCEREBELLAR DEGENERATION; TREMOR; TRINUCLEOTIDE REPEAT;

ATAXIA;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR BIOLOGY; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 85047698133     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200788     Document Type: Article

References (30)

1. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
2. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
3. Moderate expansion of a normally biallelic trinucleotide repeat in spino- cerebellar ataxia type 2
4. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
5. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
6. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α-voltage-dependent calcium channel
7. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
8. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
9. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
10. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
11. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
12. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
13. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
14. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
15. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
16. Forteen and counting: Unraveling trinucleotide repeat diseases
17. Cognitive deficits in Spinocerebellar Ataxia 1 (SCA1)
18. Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: Relationship to ataxia severity
19. Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expression of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
20. Identification and characterization of the gene causing type 1 spinocerebellar ataxia
21. Unstable repeat and phenotypic variability of spinocerellar ataxia type 1
22. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
23. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)
24. Phenotypic characterization of individuals with 30 - 40 repeats in the Huntington Disease gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
25. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
26. A simple salting out procedure for extracting DNA from human nucleated cells
27. Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3
28. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
29. Unexpected findings from a Canadian diagnostic laboratory conducting molecular testing for spinocerellar ataxia type 1
30. A novel CAG repeat configuration in the SCA1 gene: Implications for the molecular diagnostics of spinocerellar ataxia type 1