Psychological aspects of pre‐symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I
Psychological aspects of pre‐symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I
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马查多-约瑟夫病和 I 型家族性淀粉样多发性神经病症状前检测的心理方面
作者：
Luísa Rolim;Ângela Leite;S. Lêdo;M. Paneque;J. Sequeiros;Manuela Fleming
Machado–Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP‐I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. MJD and FAP‐I are late‐onset diseases, with symptoms emerging usually during adulthood. CGPP, which is the national reference centre for these disorders, has a genetic lab that offers diagnostic, pre‐symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP‐I and Huntington disease (HD). The present work is a review of our 10‐year experience with psychological counselling of individuals at risk for MJD and FAP‐I. Persons at risk for FAP‐I may show a better response to pre‐symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy. Psychological well‐being and specific distress of MJD and FAP‐I test applicants, before undergoing genetic testing (baseline level) and 3 to 6 months after disclosure of test results, have shown a low level of change, both in identified carriers and non‐carriers. A major goal of psychological characterization of at‐risk individuals for MJD and FAP‐I is to determine the factors that influence the uptake of genetic testing.
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亨廷顿病症状前 DNA 检测。
DOI：
10.1176/jnp.1.2.195
发表时间：
1989
期刊：
The Journal of neuropsychiatry and clinical neurosciences
影响因子：
--
作者：
Brandt,J;Quaid,KA;Folstein,SE
通讯作者：
Folstein,SE
葡萄牙型家族性淀粉样变性多发性神经病的生化标志物。
DOI：
10.1172/jci112224
发表时间：
1985
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Saraiva,MJ;Costa,PP;Goodman,DS
通讯作者：
Goodman,DS
影响因子：
15.9
作者：
SARAIVA, MJM;BIRKEN, S;GOODMAN, DS
通讯作者：
GOODMAN, DS
影响因子：
9.8
作者：
Gaspar, C;Lopes-Cendes, I;Rouleau, GA
通讯作者：
Rouleau, GA