Huntington disease and Huntington disease-like in a case series from Brazil

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‐acanthocytos...

Full description

Saved in:

Bibliographic Details
Published in:	Clinical genetics Vol. 86; no. 4; pp. 373 - 377
Main Authors:	Castilhos, R.M., Souza, A.F.D., Furtado, G.V., Gheno, T.C., Silva, A.L., Vargas, F.R., Lima, M.-A.F.D., Barsottini, O., Pedroso, J.L., Godeiro Jr, C., Salarini, D., Pereira, E.T., Lin, K., Toralles, M.-B., Saute, J.A.M., Rieder, C.R., Quintas, M., Sequeiros, J., Alonso, I., Saraiva-Pereira, M.L., Jardim, L.B.
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-10-2014
Subjects:	Adult benign hereditary chorea Brazil Chorea - diagnosis Chorea - epidemiology Chorea - genetics Chorea - pathology chorea-acanthocytosis Cognition Disorders - diagnosis Cognition Disorders - epidemiology Cognition Disorders - genetics Cognition Disorders - pathology Dementia - diagnosis Dementia - epidemiology Dementia - genetics Dementia - pathology DRPLA Epidemiology Female Genetic disorders HD-like HDL1 HDL2 Heredodegenerative Disorders, Nervous System - diagnosis Heredodegenerative Disorders, Nervous System - epidemiology Heredodegenerative Disorders, Nervous System - genetics Heredodegenerative Disorders, Nervous System - pathology Humans Huntington disease Huntington Disease - diagnosis Huntington Disease - epidemiology Huntington Disease - genetics Huntington Disease - pathology Huntington disease-like 2 Male Middle Aged neuroferritinopathy Neurological disorders Phenotype SCA2 spinocerebellar ataxia type 2 Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - epidemiology Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - pathology Trinucleotide Repeat Expansion - genetics Brazil HDL1 neuroferritinopathy HDL2 spinocerebellar ataxia type 2 Huntington disease-like 2 Huntington disease SCA2 DRPLA Brazil chorea-acanthocytosis HD benign hereditary chorea HD-like
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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; R2 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.
Bibliography:	ArticleID:CGE12283 ark:/67375/WNG-JSL61699-V Programa Ciência Fig. S1. Strategy of investigation.Fig. S2. Geographical origins of HD-like individuals of the present series.Fig. S3. Correlation between expanded repeats and age-at-onset in (a) HD and (b) HDL2 patients. Arrows depict those patients with intermediate alleles in trans: red arrows were seen in earlier ages at onset; purple arrows, in later ages at onset.Fig. S4. Brain magnetic resonance imaging of two HDL2 patients. Images (a-d): patient 38, 48 years, 4 years after onset (published in Santos et al. 2008). Images (e-h): patient 57, 40 years (in 2004), 4 years after onset. Coronal T2-weighted images show severe caudate head atrophy (a, e) in both individuals. Axial T2-weighted images show diffuse basal ganglia atrophy in patient 38 (b-d), less extensive in the patient 57 (g, h). White matter lesions and brain atrophy are also present. FEDER INAGEMP MCTES FAPERGS - No. 0700832 FCT - No. PEst-C/SAU/LA0002/2011 CNPq istex:095A8FEC1C298D729055B12225542A79CA44046C FIPE-HCPA - No. 06-384 ESF ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0009-9163 1399-0004
DOI:	10.1111/cge.12283