Clinical and genetic investigation of a Brazilian family with Huntington's disease.
Funct Neurol
; 31(3): 135-42, 2016.
Article
de En
| MEDLINE
| ID: mdl-27678206
ABSTRACT
The aim of this study was to investigate a Brazilian family carrying full penetrance alleles for Huntington's disease (HD) in order to correlate each member's genetic and clinical features. To this end, the following scales were administered in each patient the Beck Depression Inventory, the Mini-Mental State Examination (MMSE) and the Unified Huntington's Disease Rating Scale (UHDRS). The patterns of CAG and CCG polymorphic regions in the HTT gene were determined, the disease burden score was calculated, and genotypes were correlated with phenotypes within this family. We suggest that HD duration, the number of years of formal education, and UHDRS status variables can explain 96.6% of the MMSE variability in HD patients. A strong significant correlation was found between the disease burden score and the UHDRS (r = 0.76; p-value = 0.049) and the MMSE (r = -0.90; p-value = 0.006). The correlations between CAG allele size and the three clinical evaluations performed in the HD patients were not statistically significant.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Santé de la famille
/
Maladie de Huntington
/
Répétitions de trinucléotides
/
Protéine huntingtine
Type d'étude:
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limites:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Pays/Région comme sujet:
America do sul
/
Brasil
Langue:
En
Journal:
Funct Neurol
Sujet du journal:
NEUROLOGIA
Année:
2016
Type de document:
Article