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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.51 no.1 São Paulo Mar. 1993

http://dx.doi.org/10.1590/S0004-282X1993000100004 

Machado-Joseph disease op azorean ancestry in Brazil: the Catarina kindred neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the «Catarina» kindred

 

Doenca de Machado-Joseph de ascendência dos Açores no Brasil: a linhagem Catarina. Achados neurológicos, de neuroimagem, psiquiátricos e neuropsicológicos na maior família conhecida, a linhagem «Catarina»

 

 

J. RadvanyI; C.H.P. CamargoII; Z.M. CostaIII; N.C. FonsecaIV; E.D. NascimentoV

IDepartments of Neurology land Neuroimaging, Hospital Israelita Albert Einstein, São Paulo
IIMD; Neuropsychology Section, Division of Neurosurgery of the Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo (HC, FMUSP) BA
IIISocial Services of the Children's Institute, HC, FMUSP
IVInstituto de Neurologia e Neurocirurgia, Hospital da Beneficência Portuguesa de São Paulo MD
VDepartment of Neurology, Hospital Marieta Konder, Itajaí SC MD

 

 


SUMMARY

At the moment 9 seemingly independent families with the clinical diagnosis of MJD are known in Brazil. The largest family tree of Azorean ancestry contatins 622 individuals in 9 generations. 236 were examined, 39 found to be affected by two examiners. Pheno-types I, II and III were expressed by 12, 23 and 4 patients with age of onset by phenotypea being 10-48, 14-54 and 30-55 respectively. Although clinically more severe, juvenile onset type I disease did not show as severe a ponto-mesencephialic atrophy on MRI as the father with type II disease of similar symptomatic duration. None of the 8 patients examined with MRI showed olivary atrophy or pallidal abnormalities. 12 affected and 23 at risk were evaluated with neuropsychological tests. Attention was normal in both groups. Verbal memory scores were below normal in the affected and there was greater decay with time than in the risk group. Both scored below normal in identifying silluettes and constructional praxis. Visual memory scores were well below normal for both, with many rotations but no omissions or confabulations. A peculiar pattern of multiplying internal details called «the fly-eye effect» was observed in 6 affected and 8 at risk. Defective color distinction when multiple colors presented close to each other, in face of proper naming of individual colors («color simultantagnosia»), was looked for in 29 people. 4/10 affected and 4/19 at risk showed this phenomenon. Cognitive dysfunctions in this MJD family are prominent in the sphere of vision. Whether they constitute an early manifestation in those at risk and thus serve as a clinical identifier of the illnes is yet to be established. Depression was looked for in the history of the family with DSM III-R criteria and an atempt at quantification with the Montgomery-Asberg Rating Scale. There was no significant quantitative difference between affected and at risk. Once undeniably symptomatic however, the patients had no, or less depression than themselves before or tat the early stages of the illness. Covert depression was appropriately excluded. Fully established MJD in this family seemed to exert a protective effect from depression.

Key words: Machado-Joseph disease, MRI, neuropsychology, visual memory, color naming, depression.


RESUMO

Há, até o momento, notícia de 9 famílias não aparentadas com o diagnóstico clínico de doença de Machado-Joseph (MJD) no Brasil. Esta é a maior família do mundo com a doença. É de origem açoriana e contém 622 indivíduos na árvore genealógica. Destes, 236 foram examinados. Dois examinadores julgaram 39 como afetados. Respectivamente 12, 23 e 4 pacientes tinham os fenôtipos I, II e III dia doença, com idades no início variando entre 10-48, 14-54 e 30-55. Doença tipo I de início juvenil não mostrou atrofia tão severa nas imagens por ressonância magnética (RM) quanto doença tipo II de duração igual, demonstrando que severidade clínica e grau de atrofia não caminham paralelamente. Nenhum dos 8 pacientes examinados por RM tinha atrofia olivar ou anormalidades no globo pálido. Doze pacientes e 23 sob risco foram submetidos a avaliiação neuropsicológica. A atenção foi normal em todos. Memória verbal estava pior nos doentes com maior decaimento com o tempo que nos sob risco. Ambos os grupos tiveram pontuação abaixo do normal na identificação de silhuetas e praxia construtiva. Memória visual estava bem abaixo do normal para ambos, com muitas rotações, porém sem omissões ou confabulação. Padrão peculiar de multiplicação dos detalhes internos, que denominamos o «efeito olho de mosca» foi visto em 6 doentes e 8 sob risco. Discriminação defeituosa de cores, quando múltiplas cores eram apresentadas liado a lado, na ausência de anomia ou cegueira a cores, caracterizável como «simultamagnosia a cores», surgiu como achado e foi pesquisada em 29 sujeitos. 4/10 doentes e 6/19 sob risco mostraram esta dificuldade. Conclui-se que disfunções cognitivas na esfera visual são proeminentes nesta família. Se seriam próprias da doença e manifestação precoce daqueles sob risco, está ainda para ser estabelecido. Depressão foi avaliada com critérios do DSM III-R e com o Montgomery-Asberg Depression Rating Scale. Não houve diferença entre doentes e sob risco. Entretanto, os pacientes tiveram menos depressão do que tinham tido antes ou nas fases precoces da doençta. A MJD plenamente instalada parecia exercer efeito protetor da depressão.

Palavras-chave: doença de Machado-Joseph, ressonância magnética, neuropsicologia, memória visual, distinção de cores, depressão.


 

 

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

 

 

Aknowledgements — We are indebted to the Hospital Israelita Albert Einstein of São Paulo for the MRI studies, the Hospital Marieta Konder of Itajai for providing the space for the clinics, Dr. Guy Rouleau of the Montreal General Hospital for the genetic studies, Dr. Patrick MacLeod from the University of Kingston, Ontario for his kind guidance, and the Hotel San Remo of Camboriu for their support.

 

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Aceite: 20-agosto-1992

 

 

Dr. João Radvany — Departamentos de Neurologia e Neuroimagem, Hospital Israelita Albert Einstein — Av. Albert Einstein 627, conj. 389 — 05652-000 São Paulo SP — Brasil.