Summary
Twenty patients with myotonic dystrophy underwent neuropsychological evaluation. Performances were analysed with respect to general cognitive profile, family patterns of cognitive impairment, relation with sex, age, extent of muscular involvement, and sex of affected parent. Results showed severe intellectual deficit in 50% of patients and selective impairment of visuospatial and constructional functions. Female patients showed significantly worse global intellectual status than males. No difference in intellectual level was observed in patients with respect to age, extent of muscular involvement and sex of affected parent. No family pattern of cognitive impairment could be identified. Our results show that an extensive neuropsychological battery can reveal the existence of selective mental impairment. It may provide further data on cognitive impairment onset, progression and relation to muscular involvement.
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Albert ML, Feldman RG, Willis AL (1974) The “subcortical dementia” of progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 37:121–130
Benton A (1985) Visuoperceptual, visuospatial, and visuocon-structional disorders. In: Heilman KM, Valenstein E (eds) Clinical neuropsychology. Oxford University Press, New York, pp 151–185
Berg E (1948) A simple objective technique for measuring flexibility in thinking. J Gen Psychol 39:15–22
Bird TD, Follet C, Griep E (1983) Cognitive and personality function in myotonic muscular distrophy. J Neurol Neurosurg Psychiatry 46:971–980
Brumback RA, Wilson H (1984) Cognitive and personality function in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry 47:888–889
Bundey S (1982) Clinical evidence for heterogeneity in myotonic dystrophy. J Med Genet 19:341–348
Bundey S (1985) Genetics and neurology. Churchill Livingstone, Edinburgh
Calderon R (1966) Myotonic dystrophy: a neglected cause of mental retardation. J Pediatr 68:423–431
Caughey JE, Myrianthopoulos NE (1963) Dystrophia myotonica and related disorders. Thomas, Springfield
Christensen PB (1988) Normal pressure hydrocephalus in myotonic dystrophy. Eur Neurol 28:285–287
Culebras A, Segarra JM, Feldman RG (1972) Eosinophilic bodies within neurons in the human thalamus. J Neurol Sci 16:177–182
Culebras A, Feldman RG, Merk FB (1973) Cytoplasmic inclusion bodies within neurons of the thalamus in myotonic dystrophy. J Neurol Sci 19:319–329
Cummings JL, Benson FD (1984) Subcortical dementia. Review of an emerging concept. Arch Neurol 41:874–879
De Renzi E, Faglioni P (1975) L'esame dei disturbi afasici di comprensione orale mediante una versione abbreviata del test dei gettoni. Riv Patol Nerv Ment 96:252–269
Dyken PR, Harpers PS (1973) Congenital dystrophia myotonica. Neurology 23:465–473
Glantz RH, Wright RB, Huckman MS, Garron DC, Siegel IM (1988) Central nervous system magnetic resonance imaging findings in myotonic dystrophy. Arch Neurol 45:36–37
Glanz A, Fraser FC (1984) Risk estimates for neonatal myotonic dystrophy. J Med Genet 21:186–188
Goldstein KH, Scheerer M (1953) Test of abstract and concrete behavior. In: Weider A (ed) Contributions to medical psychology, vol 2. Ronald Press, New York
Harper PS (1972) Studies in myotonic dystrophy. Thesis, Oxford
Harper PS (1975) Congenital myotonic dystrophy in Britain. II. Genetic basis. Arch Dis Child 50:514–521
Harper PS (1979) Myotonic dystrophy. Saunders, Philadelphia
Harper PS (1983) Myotonic dystrophy and related disorders. In: Emery AEH, Rimoin DL (eds) Principles and practice of medical genetics. Churchill-Livingstone, Edinburgh
Harper PS (1986) Myotonic disorders. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1267–1296
Huber SJ, Kissel JT, Shuttleworth EC, Chakeres DW, Clapp L, Brogan M (1989) Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 46:536–540
Karagan NJ, Sorensen JP (1981) Intellectual functioning in non-Duchenne muscular dystrophy. Neurology 31:448–452
Kissel JT, Huber SJ, Clapp L, Chakeres D, Brogan M (1988) Neuropsychological assessment and magnetic resonance imaging correlates of dementia in myotonic dystrophy. Ann Neurol 24:126
Klein D (1958) La dystrophie myotonique (Steinert) et la myotonie congénitale (Thomsen) en Suisse. Etude clinique, génétique et démographique. J Genet Hum 7:1–328
Lezak MD (1976) Neuropsychological assessment. Oxford University Press, New York
Lynch HT, Tips RL, Krush A (1966) Psychodynamics in a chronic debilitating hereditary disease. Arch Gen Psychiatry 14:153–157
Maas O, Paterson AS (1937) Mental changes in families affected by dystrophia myotonica. Lancet I:21–23
Milner B (1963) Effects of different brain lesions on card sorting. Arch Neurol 9:90–100
Milner B (1971) Interhemispheric differences in the localization of psychological processes in man. Br Med Bull 27:272–277
Ono S, Inoue K, Mannen T, Kanda F, Jinnai K, Takahashi K (1987) Neuropathological changes in the brain in myotonic dystrophy — some new observations. J Neurol Sci 81:301–320
Panayiotopoulos CP, Scarpalezos S (1977) Dystrophia myotonica. A model of combined neural and myopathic muscle atrophy. J Neurol Sci 31:261–268
Pena CE (1980) Intracytoplasmic neuronal inclusions in the human thalamus. Acta Neuropathol (Berl) 52:157–159
Penez JC (1978) Les fonctions intellectuelles dans la maladie de Steinert. 17 observations. Thèse, Paris, no 17. Quoted by Granier F et al. (1985) Manifèstation psychiatriques de la maladie de Steinert. Ann Méd Psychol 144:504–514
Raven JC (1947) Progressive Matrices. Sets A. Ab, B. Lewis, London
Riggs JE, Rubenstein MN, Gutmann L (1985) Myotonic dystrophy and normal-pressure hydrocephalus. Neurology 35:1535
Roses AD, Harpers PS, Bossen EH (1979) Myotonic muscular dystrophy. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 40. North-Holland, Amsterdam, pp 485–532
Rosman NP, Kakulas BA (1966) Mental deficiency associated with muscular dystrophy. A neuropathological study. Brain 89:769–788
Strub RL, Black FW (1988) Neurobehavioral disorders. A clinical approach. Davis, Philadelphia
Tanaka K, Takeshite K, Takita M (1981) Deoxycholic acid, a candidate for the maternal intrauterine factor in early onset muscular dystrophy. Lancet I:1046–1047
Thomasen E (1948) Myotonia. Thomsen's disease, paramyotonia and dystrophia myotonica. Munksgaard, Copenhagen
Vanier TM (1960) Dystrophia myotonica in childhood. Br Med J 2:1284–1288
Walker GL, Rosser R, Mastaglia FL, Walton JN (1984) Psychometric and cranial CT in myotonic dystrophy. Clin Exp Neurol 20:161–167
Watters G, Williams T (1967) Early onset myotonic dystrophy. Arch Neurol 17:137–152
Wechsler DA (1945) A standardized memory scale for clinical use. J Psychol 19:87–95
Woodward JB, Heaton RK, Simon DB, Ringel SP (1982) Neuropsychological findings in myotonic dystrophy. J Clin Neuropsychol 4:335–342
Young RS, Gang DL, Zalneraitis E, Krishnamoorthy K (1981) Dysmaturation in infants of mothers with myotonic dystrophy. Arch Neurol 38:716–719
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Censori, B., Danni, M., Del Pesce, M. et al. Neuropsychological profile in myotonic dystrophy. J Neurol 237, 251–256 (1990). https://doi.org/10.1007/BF00314629
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DOI: https://doi.org/10.1007/BF00314629