Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

Source :

• Brain [ 0006-8950 ] ; 2003-04.

Descripteurs français

• Pascal (Inist)
  • Adulte, Age apparition, Chorée Huntington, Déterminisme génétique, Facteur prédictif, Femelle, Homozygotie, Mutation, Mâle, Phénotype, Pronostic, Séquence répétée, Trinucléotide.
• Wicri :
  • topic : Adulte.

English descriptors

• KwdEn :
  • Abbreviations: UHDRS = Unified Huntington’s Disease Rating Scale; TFC = total functional capacity, Adult, Age of onset, Aggressive behaviour, Allele, Atrophy, Behavioural, Behavioural changes, Brain atrophy, Chorea, Clinical assessment, Clinical course, Clinical data, Clinical picture, Complete dominance, Disability, Disability score, Disability scores, Disease chromosomes, Disease duration, Disease onset, Disease progression, Disease rating scale, Disease severity, Disease stage, Disease stages, Disease years, Early stages, Expansion mutation, Female, Functional decline, Generalized brain atrophy, Genet, Genetic analysis, Genetic data, Genetic determinism, Gusella, Heterozygote, Heterozygote sibling, Heterozygous patients, Heterozygous subjects, Homozygosity, Homozygote, Homozygous patients, Huntingtin, Huntington, Huntington disease, Huntington disease homozygosity, Huntington disease homozygotes, Huntington disease mutation, Huntington disease patients, Huntington disease stage, Huntington study group, Keywords: CAG expansion; CAG mutation homozygosity; disease progression; age at onset; brain atrophy; UHDRS, Kremer, Last assessment, Lower scores, Male, Medical genetics, Motor manifestations, Motor symptoms, Mouse model, Movement disorders, Multicentre study, Mutant alleles, Mutant protein, Mutation, Neurological, Neurological institute irccs, Neuronal survival, Neuropathological report, Neuropsychological testing, Normal huntingtin, Onset ages, Other diseases, Phenotype, Predictive factor, Prognosis, Progression, Range years, Repeated sequence, Research group, Score change, Severe behavioural changes, Squitieri, State examination, Symptom, Toxic gain, Trends neurosci, Trinucleotide, Uhdrs, Wechsler adult intelligence scale.
• Teeft :
  • Aggressive behaviour, Allele, Atrophy, Behavioural, Behavioural changes, Brain atrophy, Chorea, Clinical assessment, Clinical course, Clinical data, Clinical picture, Complete dominance, Disability, Disability score, Disability scores, Disease chromosomes, Disease duration, Disease onset, Disease progression, Disease rating scale, Disease severity, Disease stage, Disease stages, Disease years, Early stages, Expansion mutation, Functional decline, Generalized brain atrophy, Genet, Genetic analysis, Genetic data, Gusella, Heterozygote, Heterozygote sibling, Heterozygous patients, Heterozygous subjects, Homozygosity, Homozygote, Homozygous patients, Huntingtin, Huntington, Huntington disease, Huntington disease homozygosity, Huntington disease homozygotes, Huntington disease mutation, Huntington disease patients, Huntington disease stage, Huntington study group, Kremer, Last assessment, Lower scores, Medical genetics, Motor manifestations, Motor symptoms, Mouse model, Movement disorders, Multicentre study, Mutant alleles, Mutant protein, Mutation, Neurological, Neurological institute irccs, Neuronal survival, Neuropathological report, Neuropsychological testing, Normal huntingtin, Onset ages, Other diseases, Progression, Range years, Research group, Score change, Severe behavioural changes, Squitieri, State examination, Symptom, Toxic gain, Trends neurosci, Uhdrs, Wechsler adult intelligence scale.

Abstract

• https://api.istex.fr/document/A3EF94C030D0AF4E3ADD51F535E47CA391A6E616/fulltext/pdf

Affiliations:

• France
• Île-de-France
• Paris

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 001F09
• to stream Istex, to step Curation: 001F09
• to stream Istex, to step Checkpoint: 001B27
• to stream Main, to step Merge: 00BC60
• to stream PascalFrancis, to step Corpus: 005389
• to stream PascalFrancis, to step Curation: 000D37
• to stream PascalFrancis, to step Checkpoint: 004F49
• to stream Main, to step Merge: 00BF34
• to stream Main, to step Curation: 00AF21

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00AF21 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00AF21 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:A3EF94C030D0AF4E3ADD51F535E47CA391A6E616
   |texte=   Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
}}

This area was generated with Dilib version V0.6.33. Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024