Back to Search
Start Over
Huntington disease and Huntington disease-like in a case series from Brazil.
- Source :
-
Clinical genetics [Clin Genet] 2014 Oct; Vol. 86 (4), pp. 373-7. Date of Electronic Publication: 2013 Oct 17. - Publication Year :
- 2014
-
Abstract
- The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.<br /> (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Adult
Brazil
Chorea diagnosis
Chorea epidemiology
Chorea pathology
Cognition Disorders diagnosis
Cognition Disorders epidemiology
Cognition Disorders genetics
Cognition Disorders pathology
Dementia diagnosis
Dementia epidemiology
Dementia pathology
Female
Heredodegenerative Disorders, Nervous System diagnosis
Heredodegenerative Disorders, Nervous System epidemiology
Heredodegenerative Disorders, Nervous System pathology
Humans
Huntington Disease diagnosis
Huntington Disease epidemiology
Huntington Disease pathology
Male
Middle Aged
Phenotype
Spinocerebellar Ataxias diagnosis
Spinocerebellar Ataxias epidemiology
Spinocerebellar Ataxias pathology
Trinucleotide Repeat Expansion genetics
Chorea genetics
Dementia genetics
Heredodegenerative Disorders, Nervous System genetics
Huntington Disease genetics
Spinocerebellar Ataxias genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 86
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 24102565
- Full Text :
- https://doi.org/10.1111/cge.12283