Mental deterioration in lafora's disease

Cukiert, A.; Vilela, M.M.; Scapolan, H.B.; Lefèvre, B. H. W.; Marques-Assis, L.

doi:10.1590/S0004-282X1990000200017

Abstracts

Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration. We have performed wide neuropsychological testing in two cases early diagnosed as Lafora disease. The initial neuropsychological testing was carried out by the time there were no complaints of mental deterioration in both cases. In the first case consecutive neuropsychological testing demonstrated the rapidly progressive dementia. All neuropsychological testings in these cases showed severe impairment of right parietal lobe functions. Higher cortical functions related to language and intelectual processes were beet preserved in both cases. The functions related to constructional praxis, memory and abstract concepts and processes were severily impaired. Our data suggest that mental deterioration is an early manifestation in Lafora disease, even by the time normal social life is not yet disturbed. Dominant hemisphere cognitivo functions have been less impaired than the non-dominant ones. How a diffuse illness such as Lafora disease can cause such an asymmetrical higher cortical function deficit is not yet clear.

A doença de Lafora está incluída entre as epilepsias mioclônicas progressivas. A despeito do fato de que a demência é achado constante nesta doença poucos estudos relatam a marcha de progressão da mesma. Realizamos ampla testagem neuropsicológica em dois casos com diagnóstico precoce de doença de Lafora. A testagem neuropsicológica inicial foi realizada antes do início da deterioração mental em ambos os casos. No primeiro caso, testagens neuropsicológicas seriadas demonstraram demência rapidamente progressiva. Todas as testagens destes doentes mostraram acometimento severo de funções relacionadas ao lobo parietai direito. Funções corticais superiores relacionadas a processos intelectuais e linguagem foram melhor preservadas em ambos os casos. As funções relacionadas à praxia construtiva, memória e conceitos e processos abstratos foram mais severamente acometidos. Estes dados sugerem que a deterioração mental é manifestação precoce da doença de Lafora, mesmo em uma etapa em que a vida social e cultural desses pacientes ainda não foi afetada. Funções cognitivas relacionadas ao hemisfério dominante foram menos acometidas que aquelas relacionadas ao hemisfério não dominante. A fisiopatologia do acometimento assimétrico de funções corticais superiores nesta doença merece ser melhor estudada.

A. Cukiert; M.M. Vilela; H.B. Scapolan; B. H. W. Lefèvre; L. Marques-Assis

Department of Neurology, São Paulo University, School of Medicine

SUMMARY

Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration. We have performed wide neuropsychological testing in two cases early diagnosed as Lafora disease. The initial neuropsychological testing was carried out by the time there were no complaints of mental deterioration in both cases. In the first case consecutive neuropsychological testing demonstrated the rapidly progressive dementia. All neuropsychological testings in these cases showed severe impairment of right parietal lobe functions. Higher cortical functions related to language and intelectual processes were beet preserved in both cases. The functions related to constructional praxis, memory and abstract concepts and processes were severily impaired. Our data suggest that mental deterioration is an early manifestation in Lafora disease, even by the time normal social life is not yet disturbed. Dominant hemisphere cognitivo functions have been less impaired than the non-dominant ones. How a diffuse illness such as Lafora disease can cause such an asymmetrical higher cortical function deficit is not yet clear.

RESUMO

A doença de Lafora está incluída entre as epilepsias mioclônicas progressivas. A despeito do fato de que a demência é achado constante nesta doença poucos estudos relatam a marcha de progressão da mesma. Realizamos ampla testagem neuropsicológica em dois casos com diagnóstico precoce de doença de Lafora. A testagem neuropsicológica inicial foi realizada antes do início da deterioração mental em ambos os casos. No primeiro caso, testagens neuropsicológicas seriadas demonstraram demência rapidamente progressiva. Todas as testagens destes doentes mostraram acometimento severo de funções relacionadas ao lobo parietai direito. Funções corticais superiores relacionadas a processos intelectuais e linguagem foram melhor preservadas em ambos os casos. As funções relacionadas à praxia construtiva, memória e conceitos e processos abstratos foram mais severamente acometidos. Estes dados sugerem que a deterioração mental é manifestação precoce da doença de Lafora, mesmo em uma etapa em que a vida social e cultural desses pacientes ainda não foi afetada. Funções cognitivas relacionadas ao hemisfério dominante foram menos acometidas que aquelas relacionadas ao hemisfério não dominante. A fisiopatologia do acometimento assimétrico de funções corticais superiores nesta doença merece ser melhor estudada.

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Dr. Arthur Cukiert - Rua Baltazar da Veiga 367, apto. 151 . 04510 São Paulo SP - Brasil

1. Berges J, L'Ezine I - The imitation of gestures. Clinics in Developmental Medicine 18. William Heinemann, London, 1965.
2. Berkovic SF, Andermann F, Carpenter S, Wolfe LS - Progressive myoclonus epilepsy: specific causes and diagnosis. N Engl J Med 315:296, 1986.
3. Boudouresques J, Roger J, Khalil R, Pelissier JF, Cherif AA, Tafani B, Champion MF - Deux cas familiaux de maladie de Lafora. Rev Neurol (Paris) 34:523, 1978.
4. Busard HLSM, Gabreels-Festen AAWN, Renier WO, Gabreels FJM, Stadhouders AM - Axilla skin biopsy: a reliable test for the diagnosis of Lafora disease. Ann Neurol 21:599, 1987.
5. Carpenter S, Karpati G - Sweet gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology 31:1564, 1981.
6. Goldstein K, Scheerer M - Abstract and Concrete Behaviour: an Experimental Study with Special Tests. Psychological Monographs. American Psychological Association, Washington, 1941.
7. Lefèvre A - Exame Neurológico Evolutivo. Sarvier, São Paulo, 1972.
8. Luria AR - Higher Cortical Functions in Man. Basic Books, New York, 1966.
9. McFie J - The diagnosis of disorders of higher cortical activity: syndromes related to frontal, temporal, parietal and occipital lesions. In Vinken PJ, Bruyn GW: Handbook Clinical Neurology, Vol 4. North Holland, Amsterdam, 1969.
10. Piaget J, Inhelder B - La Representation de l'Espace Chez l'Enfant. Presses Universitaires de France, Paris, 1948.
11. Raven JC - Coloured Progressive Matrices. Lewis, London, 1956.
12 Roger J, Gastaut H, Toga M, Soulayrol R, Regis H, Loo H, Tassinari A, Dubois A, Poinso Y, Mesdjian E - Epilepsie mioclonique progressive avec corps de Lafora: étude clinique, poligraphique et anatomique d'un cas. Rev Neurol (Paris) 112:50, 1965.
13. Roger J, Gastaut H, Boudouresques J, Toga M, Dubois D, Lob H - Epilepsie myoclonique progressive avec corps de Lafora: étude clinique et poligraphique; controle anatomique ultrastructural. Rev Neurol (Paris) 116:197, 1967.
14 Roger J, Pelissier JF, Bureau M, Dravet C, Revol M, Tinuper P - Le diagnostic précoce de la maladie de Lafora: importance des manifestations visuelles et interêt de la biopsie cutanée. Rev Neurol (Paris) 139:115, 1983.
15. Tassinari CA, Bureau-Paillas M, Dalla-Bernardina B, Picornell-Darder I, Mouren MC, Dravet C, Roger J - La maladie de Lafora. Rev EEC Neurophysiol 8:107, 1978.
16. Terman LM, Merril MA - Stanford-Binnet Intelligence Scale. Houghton Mifflin, Boston, 1960.
17. Tinuper P, Aguglia U, Pelissier JF, Gastaut H - Visual ictal phenomena in a case of Lafora disease proven by skin biopsy. Epilepsia 24:214, 1983.
18. Van-Heycop-ten-Ham M, De Jgar H - Progressive myoclonus epilepsy with Lafora bodies: clinical-pathological features. Epilepsia 4:95, 1963.
19. Wechsler D - The Measurement and Appraisal of Adult Intelligence. Williams & Wilkins, Baltimore, 1958.
20. Zazzo R - Manual para o Exame Psicológico da Criança. Mestre Jou, São Paulo, 1968.

Mental deterioration in lafora's disease

Deterioração mental na doença de Lafora

Publication Dates

Publication in this collection
25 May 2011
Date of issue
June 1990

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Berges J, L'Ezine I - The imitation of gestures. Clinics in Developmental Medicine 18. William Heinemann, London, 1965.

[2] 2. Berkovic SF, Andermann F, Carpenter S, Wolfe LS - Progressive myoclonus epilepsy: specific causes and diagnosis. N Engl J Med 315:296, 1986.

[3] 3. Boudouresques J, Roger J, Khalil R, Pelissier JF, Cherif AA, Tafani B, Champion MF - Deux cas familiaux de maladie de Lafora. Rev Neurol (Paris) 34:523, 1978.

[4] 4. Busard HLSM, Gabreels-Festen AAWN, Renier WO, Gabreels FJM, Stadhouders AM - Axilla skin biopsy: a reliable test for the diagnosis of Lafora disease. Ann Neurol 21:599, 1987.

[5] 5. Carpenter S, Karpati G - Sweet gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology 31:1564, 1981.

[6] 6. Goldstein K, Scheerer M - Abstract and Concrete Behaviour: an Experimental Study with Special Tests. Psychological Monographs. American Psychological Association, Washington, 1941.

[7] 7. Lefèvre A - Exame Neurológico Evolutivo. Sarvier, São Paulo, 1972.

[8] 8. Luria AR - Higher Cortical Functions in Man. Basic Books, New York, 1966.

[9] 9. McFie J - The diagnosis of disorders of higher cortical activity: syndromes related to frontal, temporal, parietal and occipital lesions. In Vinken PJ, Bruyn GW: Handbook Clinical Neurology, Vol 4. North Holland, Amsterdam, 1969.

[10] 10. Piaget J, Inhelder B - La Representation de l'Espace Chez l'Enfant. Presses Universitaires de France, Paris, 1948.

[11] 11. Raven JC - Coloured Progressive Matrices. Lewis, London, 1956.

[12] 12 Roger J, Gastaut H, Toga M, Soulayrol R, Regis H, Loo H, Tassinari A, Dubois A, Poinso Y, Mesdjian E - Epilepsie mioclonique progressive avec corps de Lafora: étude clinique, poligraphique et anatomique d'un cas. Rev Neurol (Paris) 112:50, 1965.

[13] 13. Roger J, Gastaut H, Boudouresques J, Toga M, Dubois D, Lob H - Epilepsie myoclonique progressive avec corps de Lafora: étude clinique et poligraphique; controle anatomique ultrastructural. Rev Neurol (Paris) 116:197, 1967.

[14] 14 Roger J, Pelissier JF, Bureau M, Dravet C, Revol M, Tinuper P - Le diagnostic précoce de la maladie de Lafora: importance des manifestations visuelles et interêt de la biopsie cutanée. Rev Neurol (Paris) 139:115, 1983.

[15] 15. Tassinari CA, Bureau-Paillas M, Dalla-Bernardina B, Picornell-Darder I, Mouren MC, Dravet C, Roger J - La maladie de Lafora. Rev EEC Neurophysiol 8:107, 1978.

[16] 16. Terman LM, Merril MA - Stanford-Binnet Intelligence Scale. Houghton Mifflin, Boston, 1960.

[17] 17. Tinuper P, Aguglia U, Pelissier JF, Gastaut H - Visual ictal phenomena in a case of Lafora disease proven by skin biopsy. Epilepsia 24:214, 1983.

[18] 18. Van-Heycop-ten-Ham M, De Jgar H - Progressive myoclonus epilepsy with Lafora bodies: clinical-pathological features. Epilepsia 4:95, 1963.

[19] 19. Wechsler D - The Measurement and Appraisal of Adult Intelligence. Williams & Wilkins, Baltimore, 1958.

[20] 20. Zazzo R - Manual para o Exame Psicológico da Criança. Mestre Jou, São Paulo, 1968.