Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.
Arch Neurol
; 61(12): 1943-7, 2004 Dec.
Article
en En
| MEDLINE
| ID: mdl-15596617
BACKGROUND: Central nervous system involvement occurs in most patients with myotonic dystrophy type 1 (DM1): mental retardation characterizes congenital forms, while a mild cognitive impairment has been described in adult patients with classic DM1. Neuropathological studies documented neurofibrillary tangles and an aberrant tau-protein expression in brain tissues of patients and animal models of DM1. OBJECTIVES: To characterize the pattern of cognitive dysfunction occurring in DM1 and to analyze genotype-phenotype correlations in patients with DM1. METHODS: We assessed the results of a detailed neuropsychological study, including Mini-Mental State Examination, memory, linguistic level, praxis, attentional and frontal-executive tasks, in a group of 70 patients with DM1, including 10 congenital and 60 classic forms. Statistical analysis of data was performed using analysis of variance for multiple tests. RESULTS: Our study documented 2 distinct patterns of cognitive impairment in DM1: in particular, we confirmed the presence of a cognitive pattern characteristic of mental retardation in congenital cases, whereas in adult forms we documented an aging-related decline of frontal and temporal cognitive functions. No correlations were found between cognitive impairment and (CTG)(n) in leukocytes or severity of muscle involvement. CONCLUSIONS: Adult patients with DM1 frequently develop, with aging, a focal dementia: such findings agree with recent studies documenting an abnormal tau-protein expression in the brain tissues of patients with DM1. Cognitive decline may represent the only relevant clinical manifestation of DM1 in patients carrying very small (CTG)(n) expansions in leukocytes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trastornos del Conocimiento
/
Distrofia Miotónica
Tipo de estudio:
Prognostic_studies
Límite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Arch Neurol
Año:
2004
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos