Objectives: It was the aim of this study to determine the depression scores of Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD, and second, to verify the existence of a correlation between depressive symptoms and the degree of motor incapacitation. Subjects and Methods: Two hundred and forty-six individuals aged ≧18 years were studied: 79 MJD patients (group 1), 43 spouses of MJD patients (group 2), 80 individuals at risk for MJD (group 3), and a control group (group 4) composed of 44 patients with multiple sclerosis (MS). The following two tools were applied: the Beck Depression Inventory and the Barthel index of physical incapacitation, both in an adapted Brazilian Portuguese version. Results: Moderate to severe depressive scores were found in 33.5% of patients in the MJD families, in 16.3% of the spouses, and in 6.3% of the individuals at risk. This linear reduction between MJD family members was statistically significant (p < 0.0001, ANOVA). Depressive scores were also associated with age and the female sex. A direct correlation between Beck Depression Inventory scores and motor incapacitation was found in MJD patients (r = 0.507, Pearson correlation, p < 0.0001). Although the depressive symptoms in the control group with MS were higher than those found in MJD patients (59% of MS patients showed moderate to severe scores), depression did not correlate with physical incapacitation, age, or education attainment in the MS group. Conclusions: Depressive symptoms are rather common in MJD patients and in their spouses (caregivers). In this condition, depression seemed to be more reactive than primarily related to the disease process itself.

Keywords:
Machado-Joseph disease, Spinocerebellar ataxias, Polyglutamines, Depressive symptoms, Multiple sclerosis
1.
Nakano KK, Dawson DM, Spence A: Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972;22:49–55.
2.
Woods BT, Schaumburg HH: Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. J Neurol Sci 1972;17:149–166.
3.
Rosenberg RN, Nyhan WL, Bay C, Shore P: Autosomal dominant striatonigral degeneration. Neurology 1976;26:703–714.
4.
Sequeiros J, Coutinho P: Epidemiology and clinical aspects of Machado-Joseph disease; in Harding A, Deufel T, Chamberlain S (eds): Hereditary Ataxias. New York, Raven Press, 1993, vol 61, pp 139–153.
5.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221–228.
6.
Cummings CJ, Zoghbi HY: Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet 2000;9:909–916.
7.
Maciel P, Costa MC, Ferro A, Rousseau M, Santos ES, Gaspar C, Barros J, Rouleau GA, Coutinho P, Sequeiros J: Improvement in the molecular diagnosis of Machado-Joseph disease. Arch Neurol 2001;58:1821–1827.
8.
Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, Moreira MC, Mendonça P, Ferreirinha F, Sequeiros J, Giugliani R: Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds. Acta Neurol Scand 2001;104:224–331.
9.
Poser CM, Paty DW, Scheinber L, McDonald WI, Davis FA, Ebers GC, Johnson KP, Sibley WA, Silberberg DH, Tourtellotte WW: New diagnostic criteria for multiple sclerosis: guidelines for research protocol. Ann Neurol 1983;13:227–231.
10.
Beck AT, Steer RA: Beck Depression Inventory – Manual. San Antonio, Psychological Corporation, 1993.
11.
Mahoney FI, Barthel DW: Functional evaluation: the Barthel Index. Md State Med J 1965;14:56–61.
12.
Cunha AJ, Pires AP: O trabalho em hospital provoca na equipe técnica efeitos psicológicos que se refletem em escores de medidas de depressão, de ansiedade e de desesperança. Abstract presented at the 46th Congresso Brasileiro de Enfermagem, Porto Alegre, 1997.
13.
Gorenstein C, Andrade L: Validation of a Portuguese version of the Beck Depression Inventory and the State-Trait Anxiety Inventory in Brazilian Subjects. Braz J Med Biol Res 1996;29:453–457.
14.
Gorenstein C, Pompéia S, Andrade L: Scores of Brazilian University students on the Beck Depression Inventory and the State-Trait Anxiety Inventory. Psychol Rep 1995;77:635–641.
15.
Ustun TB, Sartorius N: Mental Illness in Primary Care: An International Study. New York, John Wiley, 1995.
16.
Mueller TI, Leon AC, Keller MB, Solomon DA, Endicott J, Coryell W, et al: Recurrence after recovery from major depressive disorder during 15 years of observational follow-up. Am J Psychiatry 1999;156:1000–1006.
17.
Keller MB, Lavori PW, Mueller TI, Endicott J, Coryell W, Hirschfeld RM, et al: Time to recovery, chronicity, and level of psychopathology in major depression: a 5-year prospective follow-up of 431 subjects. Arch Gen Psychiatry 1992;49:809–816.
18.
Depression Guideline Panel: Depression in Primary Care, vol 1: Detection and Diagnosis. Clinical Practice Guideline No 5. Rockville, Department of Health and Human Services, AHCPR publication No 93-0550, 1993.
19.
Fleck MP: Depressão; in Duncan BB, Schmidt MI, Giugliani ERJ, et al (eds): Medicina ambulatorial: condutas de atenção primária baseadas em evidências, ed 3. Porto Alegre, Artes Médicas, 2004, pp 884–874.
20.
Tibben A, Timman R, Bannink EC, Duivenvoorden HJ: Three-year follow-up after pre-symptomatic testing for Huntington’s disease in tested individuals and partners. Health Psychol 1997;16:20–35.
21.
Broadstock M, Michie S, Marteau TM: The psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Genet 2000;8:731–738.
22.
Duisterhof M, Trijsburg RW, Niermeijer MF, Roos RAC, Tibben A: Psychological studies on Huntington’s disease: making up the balance. J Med Genet 2001;38:852–861.
23.
Romero LJ, Garry PJ, Schuyler M, Bennahum DA, Qualls C, Ballinger L, Kelly V, Schmitt C, Skipper B, Ortiz IE, Rhyne RL: Emotional responses to APO E genotype disclosure for Alzheimer’s disease. J Genet Couns 2005;14:141–150.
24.
Erblich J, Bovbjerg DH, Valdimarsdottir HB: Looking forward and back: distress among women at familial risk for breast cancer. Ann Behav Med 2000;22:53–59.
25.
Loader S, Shields CG, Rowley PT: Impact of genetic testing for breast-ovarian cancer susceptibility. Genet Test 2004;8:1–12.
26.
Gonzalez C, Lima M, Kay T, Silva C, Santos S, Santos J: Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores. Community Genet 2004;7:196–201.
27.
Maruff R, Tyler P, Burt T, Currie B, Burns C, Currie J: Cognitive deficits in Machado-Joseph disease. Ann Neurol 1996;40:421–427.
28.
Radvany J, Camargo CHP, Costa ZM, Fonseca NC, Nascimento ED: Machado-Joseph disease in Azorean ancestry in Brazil: the Catarina kindred. Arq Neuropsiquiatr 1993;51:21–30.
29.
Zawacki TM, Grace J, Friedman JH, Sudarsky L: Executive and emotional dysfunction in Machado-Joseph disease. Mov Disord 2002;17:1004–1010.
30.
Leroi I, O’Hearn E, Marsh L, Lyketsos CG, Rosenblatt A, Ross CA, Brandt J, Margolis RL: Psychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington’s disease. Am J Psychiatry 2002;159:1306–1314.
31.
Ishikawa A, Yamada M, Makino K, Ainda I, Idezuka J, Takeshi I, Soma Y, Takahashi H, Tsuji S: Dementia and delirium in 4 patients with Machado-Joseph disease. Arch Neurol 2002;59:1804–1808.
32.
Paúl C, Martin I, Sequeiros J: Construção de uma escala de atitudes face ao casamento e filhos para estudo da adesão ao teste preditivo de doenças genéticas. Abstract presented at the 3rd Congresso Nacional de Psicologia da Saúde. Lisboa, ISPA, 2000, pp 165–171.
33.
Boutté MI: Waiting for the family legacy: the experience of being at risk for Machado-Joseph disease. Soc Sci Med 1990;30:839–847.
34.
Kash KM, Ortega-Verdejo K, Dabney MK, Holland JC, Miller DG, Osborne MP: Psychosocial aspects of cancer genetics: women at high risk for breast and ovarian cancer. Semin Surg Oncol 2000;18:333–338.
35.
Rowley PT: Screening for an inherited susceptibility to colorectal cancer. Genet Test 2004;8:421–430.
36.
Vincent KR: Full Battery Codebook. A Handbook of Psychological Test Interpretation for Clinical Counseling, Rehabilitation and School Psychology. New Jersey, Abley Publishing Corporation, 1987.
37.
Feinstein A, Roy P, Lobaugh N, Feinstein K, O’Connor P, Black S: Structural brain abnormalities in multiple sclerosis patients with major depression. Neurology 2004;62:586–590.
38.
Rabins PV, Brooks BR, O’Donnell P, Pearlson GD, Moberg P, Jubelt B, Coyle P, Dalos N, Folstein MF: Structural brain correlates of emotional disorder in multiple sclerosis. Brain 1986;109:585–597.
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2006
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