Integral Management of Costa Rican Patients with Huntington's Disease and their Families
DOI:
https://doi.org/10.51481/amc.v53i3.756Keywords:
Costa Rica, asesoramiento genético, enfermedad de Huntington, diagnóstico molecular, neuropsicologíaAbstract
Aim: To perform the molecular diagnosis to affected persons and their relatives at 50% risk of Huntington's Disease and to give genetic counselling, psychological and clinical follow-up. This will improve the clinical management of the patients that could be translated into a better quality of life for them and their families.
Methods: Molecular diagnosis for patients with clinical diagnosis of Huntington, their asymptomatic relatives at 50% risk and patients with an unclear diagnosis. The patients received genetic counselling and psychological evaluation. Positive patients for the mutation, both symptomatic and asymptomatic, who did not have a regular medical control, were referred to the neurologist for an adequate clinical management.
Results: So far, 64 individuals have been studied (35 women and 29 men) belonging to 11 unrelated and different families. Clinical diagnosis of Huntington was confirmed in six of these patients; another six patients who had an unclear diagnosis were tested but only one of them was confirmed as having Huntington. From 52 individuals at risk, 17 resulted positive for the mutation. So far, 20 women and 17 men have been evaluated at the psychological level. There are other diseases similar to Huntington, therefore, molecular diagnosis is a helpful tool in order to establish the right clinical diagnosis.
Conclusion: According to our experience, pre-symptomatic testing fully addresses the following individual's expectancies: uncertainty relief, knowledge of the risk of transmitting the disease to their children and health care planning in the coming years. No differences were found among individuals assessed at the psychological level with a positive or negative molecular diagnosis.
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References
Landles C, Bates G. Huntingtin and the molecular pathogenesis of Huntington disease. EMBO 2004;5:958-963.
Hayden MR, Fremer B. Huntington's disease. In: Scriver CR, Sly WS, editors. The metabolic and molecular bases of inherited disease. 8a. edition. McGraw-Hill Professional, 2000:5677-5701.
Shannon KM. Movement Disorders. In: Bradley WG, Daroff RB, Fenichel GM, Jankovic J, editors. Neurology in Clinical Practice. 4a edition. Butterworth-Heinemann, 2004; 2148-52.
Bates G, Harper PS, Jones L. Huntington's disease. 3rd ed. Oxford: Oxford University. Press, 2002.
Gusella J, Young AB. Huntington's Disease. In: Conneally M (Ed.). Molecular Basis of Neurology. Boston: Blackwell Scientific Publications; 1993. p.113-127.
The Huntington`s Disease Research Collaborative Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
Potter NT, Spector EB, Prior TW. Technical Standards and Guidelines for Huntington Disease Testing. Genet Med 2004;6(1):61-5.
Gusella JF, Wexler NS, Conneally PM, Naylor SM, Anderson MA, Tanzi RE et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983; 306: 234-238.
Straus WM. Preparation of genomic DNA from mammalian tissue. In Ausubel FM, R Brent, RE Kinston (Eds.). Current protocols in molecular biology. New York: Wiley; 1988.p.2.2.1-2.2.3.
Warner JP, Barron LH, Brock DJH. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosome. Mol Cell Probes 1993;7:23539.
Watson D, Clark LA, Tellegen A. Development and validation of brief measures of positives and negatives affect: The PANAS scales. Journal of Personality and Social Psychology 1988;54:1063-1070.
Carver CS, Scheier MF, Weintraub JK. Assessing coping strategies; A theoretically based approach. Journal of Personality and Social Psycholgy 1989;56, 267-283.
Derogatis LR, Lipman RS, Rickels K, Uhlenhuth EH, Covi L. The Hopkins Symptom Checklist: a measure of primary symptom dimensions. Psychological Measurements Psychopharmacology 1974;7:79-110.
Ferrans CE, Powers MJ. Quality of Life Index: Development and Psychometric Properties. Advances in Nursery Sciences 1985; 8: 1524.
Scharzer R, Dunkel-Schetter Ch, Kemeny M. The Multidimensional Nature of Received Social Support in Gay Men at Risk of HIV Infection and AIDS. American Journal of Community Psychology 1994;22: 319-330.
Kincannon J. Prediction of the Standart MMPI Scale Scores from 71 Items: The Mni-Mult. Journal of Consulting and Clinical Psychology 1968;32: 319-325.
Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington´s disease. Nat Genet 1993;4:398403.
Whitefield JE, Williams L, Snow K, Dixon J, Winship I, Stapleton PM et al. Molecular analysis of the Huntington´s disease gene in New Zealand. N Z Med J 1996;109(1015):27-30.
Sánchez A, Castellvi-Bel S, Mila M, Genis D, Calopa M, Jiménez D et al. Huntington´s disease: confirmation of diagnosis and presymptomatic testing in spanish families by genetic analysis. J Neurol Neurosurg Psychiatry 1996;61: 625-7.
Alonso ME, Yescas P, Cisneros B, Martínez C, Silva G, Ochoa A et al. Analysis of the (CAG)n repeat causing Huntington´s disease in a Mexican population. Clin Genet 1997;51:225-30.
Lima e Silva T, Guerra H, Bertuzzo C, Lopes I. Molecular diagnosis of Huntington disease in Brazilian patients. Arq Neuropsiquiatr 2000;58: 11-17.
Saleem Q, Roy S, Murgood U, Saxena R, Verma IC, Anand A et al. Molecular analysis of Huntington´s disease and linked polymorphisms in the Indian population. Acta Neurol Scand 2003;108:281-86.
Akbas F, Erginel-Unaltuna N. DNA testing for Huntington disease in the Turkish population. Eur Neurol 2003;50: 20-4.
The U.S.-Venezuela Collaborative Research Project. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Nat Acad Sci 2004;101: 498503.
Rasmussen A, Alonso E. El diagnóstico predictivo genético y sus implicaciones. Salud Mental 2002;25: 9-13.
Dudokdewit AC, Tibben A, Duivenvoorden HJ, Niermeijer MF, Passchier J, Trijsburg RW. Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: comparing questionnaire results with in-depth interviews. Am J Med Genet 1998;75:62-74.
Hayden MR, Bloch M, Wiggins S. Psychological effects of predictive testing for Huntington's disease. Adv Neurol 1995;65:201-210.
Encinosa, G. Corea de Huntington. Revista Cubana de Genética Humana 2001;3: 1-15
Murray J, Cuckle H, Taylor G, Hewison J. Screening for fragile X Syndrome: information needs for health planners. J Med Screen 1997;4: 60-94.
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