RESUMO
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.
Assuntos
Coreia/genética , Demência/genética , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Doença de Huntington/genética , Ataxias Espinocerebelares/genética , Adulto , Brasil , Coreia/diagnóstico , Coreia/epidemiologia , Coreia/patologia , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/genética , Transtornos Cognitivos/patologia , Demência/diagnóstico , Demência/epidemiologia , Demência/patologia , Feminino , Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico , Transtornos Heredodegenerativos do Sistema Nervoso/epidemiologia , Transtornos Heredodegenerativos do Sistema Nervoso/patologia , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/epidemiologia , Doença de Huntington/patologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/patologia , Expansão das Repetições de Trinucleotídeos/genéticaRESUMO
In this work, the MCNP4B code has been employed to calculate conversion coefficients from air kerma to the ambient dose equivalent, H*(10)/Ka, for monoenergetic photon energies from 10 keV to 50 MeV, assuming the kerma approximation. Also estimated are the H*(10)/Ka for photon beams produced by linear accelerators, such as Clinac-4 and Clinac-2500, after transmission through primary barriers of radiotherapy treatment rooms. The results for the conversion coefficients for monoenergetic photon energies, with statistical uncertainty <2%, are compared with those in ICRP publication 74 and good agreements were obtained. The conversion coefficients calculated for real clinic spectra transmitted through walls of concrete of 1, 1.5 and 2 m thick, are in the range of 1.06-1.12 Sv Gy(-1).