Huntington disease in children: Genotype-phenotype correlation

Neuropediatrics

Volumn 31, Issue 4, 2000, Pages 190-194

  Rasmussen, A ^a   Macias, R ^a   Yescas, P ^a   Ochoa, A ^a   Davila, G ^b   Alonso, E ^a  

^a NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

^b INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

Author keywords

Childhood; Genotype phenotype correlation; Huntington disease; Neurodegenerative diseases

Indexed keywords

ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; GENOTYPE; HUMAN; HUNTINGTON CHOREA; LEARNING DISORDER; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; RIGIDITY;

ALLELES; BRAIN; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; DIAGNOSIS, DIFFERENTIAL; ELECTROENCEPHALOGRAPHY; EPILEPSY, TONIC-CLONIC; GENOTYPE; HUMANS; HUNTINGTON DISEASE; MAGNETIC RESONANCE IMAGING; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; POINT MUTATION; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0033771298     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-7461     Document Type: Article

References (30)

1. Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population
2. CAG repeat size and clinical presentation in Huntington's disease
3. Trinucleotide repeat length and clinical progression in Huntington's disease
4. Genetic anticipation. Expanding tandem repeats
5. Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD
6. Mutation size and age at onset in Huntington's disease
7. Dynamic mutation in Dutch Huntington's disease patients: Increased paternal repeat instability extending to within the normal size range
8. Familial inverted choreoathetosis
9. Juvenile Huntington chorea: Clinical, ultrastructural and biochemical studies
10. Juvenile Huntington's chorea
11. Infantile Huntington's disease
12. Large intergenerational variation in age of onset in two young patients with Huntington's disease presenting as dyskinesia
13. Unified Huntington's disease rating scale: Reliability and consistency
14. Huntington's chorea in childhood
15. Molecular analysis and clinical correlations of the Huntington's disease mutation
16. Observations on Huntington's chorea in childhood
17. Genetic testing of children at risk for Huntington's disease
18. Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease
19. Childhood and adolescent forms of Huntington's disease
20. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
21. Juvenile Huntington disease in the Netherlands
22. Huntington's disease in Grampian region: Correlation of the CAG repeat number and the age of onset of the disease
23. DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
24. Neurochemical substrates of rigidity and chorea in Huntington's disease
25. Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent
26. Instability of CAG repeats in Huntington's disease: Relation to parental transmission and age of onset
27. Juvenile Huntington disease
28. Toward understanding the molecular pathology of Huntington's disease
29. Parental transmission in Huntington's disease