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Detection of Lewy bodies in Trisomy 21 (Downs syndrome)

Lookup NU author(s): Dr Stephen Tyrer, Emeritus Professor Robert Perry


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The presence of cortical senile plaques and neurofibrillary tangles sufficient to warrant a neuropathological diagnosis of Alzheimer's disease is well established in middle-aged individuals with Trisomy 21 (Down's syndrome). In contrast a relationship between Down's syndrome and Lewy bodies, one of the major neuropathological features of Parkinson's disease, has not been previously reported. In a cliniconeuropathological survey of 23 cases of Down's Syndrome, two patients, aged 50 and 56 years respectively, were found to have Lewy body formation in the substantia nigra in addition to cortical Alzheimer-type pathology. Neither case showed significant substantia nigra neuron loss although locus coeruleus loss was present in both. Since substantia nigra Lewy bodies are a characteristic neurohistological feature of idiopathic Parkinson's disease, their occurrence in cases of Down's syndrome with evidence of Alzheimer-type pathology supports an aetiopathological connection between Parkinson's disease, Alzheimer's disease, and Down's syndrome; and suggests that common pathogenic mechanisms may underlie aspects of neuronal degeneration in these three disorders, some of which may relate to aberrant chromosome 21 expression.

Publication metadata

Author(s): Raghavan R, Khinnu C, Brown A, Irving D, Ince PG, Day K, Tyrer SP, Perry RH

Publication type: Article

Publication status: Published

Journal: Canadian Journal of Neurological Sciences

Year: 1993

Volume: 20

Issue: 1

Pages: 48-51

Print publication date: 01/02/1993

ISSN (print): 0317-1671

ISSN (electronic):

Publisher: Canadian Journal of Neurological Sciences, Inc.