Journal
EUROPEAN JOURNAL OF NEUROLOGY
Volume 14, Issue 9, Pages 1057-1059Publisher
WILEY
DOI: 10.1111/j.1468-1331.2007.01664.x
Keywords
de novo; genetic AD; presenilin; storage disease
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We describe a case of a young patient suffering from a rapidly progressive cognitive decline, associated with delusions, myoclonus and seizures and with no family history for dementia. Clinical features, along with skin biopsy findings were overlapping storage disease; the genetic analysis, however, demonstrated a de novo presenilin 1 mutation. The present report suggests the usefulness of genetic determinations in early-onset cases of dementia, even without an autosomal dominant trait of inheritance; for these cases and their relatives an extensive genetic counselling should be recommended.
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