Abstract | 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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Authors | Anna Modoni, Gabriella Silvestri, Maria Grazia Pomponi, Fortunato Mangiola, Pietro A Tonali, Camillo Marra |
Journal | Archives of neurology
(Arch Neurol)
Vol. 61
Issue 12
Pg. 1943-7
(Dec 2004)
ISSN: 0003-9942 [Print] United States |
PMID | 15596617
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Aged
- Chi-Square Distribution
- Cognition Disorders
(genetics, psychology)
- Female
- Humans
- Male
- Middle Aged
- Myotonic Dystrophy
(genetics, psychology)
- Neuropsychological Tests
(statistics & numerical data)
- Psychiatric Status Rating Scales
(statistics & numerical data)
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