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PMID |
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TITLE |
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Identification of families with cortical Lewy body disease. |
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ABSTRACT |
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Until recently, cortical Lewy body disease (CLB) was considered essentially the same as dementia with Lewy bodies (DLB). It is now known patients with Parkinson's disease (PD) with a later-onset dementia (PD-dementia) have the same pattern and extent of cortical Lewy body pathology. Inheritance patterns of CLB have not been evaluated previously. To identify genetic influence on CLB, all cases with this pathology need to be considered. We selected 180 cases meeting clinical and/or pathological criteria for DLB or PD (+/-dementia) from two patient groups: a PD and PD-dementia brain donor program, and a case-control study of Alzheimer's disease (AD). Cases meeting NINCDS-ADRDA criteria for probable AD were excluded and non-demented PD cases used as a comparison group. A detailed family history was taken analyzing onset and progression of dementia and PD phenotypes and a family tree constructed. The frequency of a positive family history of dementia and/or PD and risk of developing CLB in relatives was calculated. Fifty-five percent of dementia and 52% of PD cohorts did not have relatives with clinical disease. There was no increased frequency of familial disease in the CLB cohort compared with PD. However, in half the CLB families, rather than a dominant dementia, the clinical presentation varied (dementia and/or PD). Unlike PD, there was an increased risk of dementia if CLB was present in a parent ( approximately 20% risk) compared with another family member ( approximately 5% risk), suggesting CLB is more likely than PD to occur in a pattern consistent with autosomal dominant inheritance. |
Copyright 2004 Wiley-Liss, Inc. |
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DATE PUBLISHED |
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HISTORY |
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PUBSTATUS |
PUBSTATUSDATE |
pubmed |
2004/06/24 05:00 |
medline |
2005/02/17 09:00 |
entrez |
2004/06/24 05:00 |
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AUTHORS |
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NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
Harding AJ |
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Harding |
Antony J |
AJ |
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Prince of Wales Medical Research Institute, Barker Street, Randwick, Sydney, NSW 2031, Australia. A.Harding@unsw.edu.au |
Das A |
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Das |
Anurina |
A |
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Kril JJ |
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Kril |
Jillian J |
JJ |
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Brooks WS |
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Brooks |
William S |
WS |
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Duffy D |
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Duffy |
David |
D |
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Halliday GM |
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Halliday |
Glenda M |
GM |
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INVESTIGATORS |
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JOURNAL |
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VOLUME: 128B |
ISSUE: 1 |
TITLE: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics |
ISOABBREVIATION: Am. J. Med. Genet. B Neuropsychiatr. Genet. |
YEAR: 2004 |
MONTH: Jul |
DAY: 1 |
MEDLINEDATE: |
SEASON: |
CITEDMEDIUM: Print |
ISSN: 1552-4841 |
ISSNTYPE: Print |
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MEDLINE JOURNAL |
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MEDLINETA: Am J Med Genet B Neuropsychiatr Genet |
COUNTRY: United States |
ISSNLINKING: 1552-4841 |
NLMUNIQUEID: 101235742 |
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PUBLICATION TYPE |
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PUBLICATIONTYPE TEXT |
Journal Article |
Research Support, Non-U.S. Gov't |
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COMMENTS AND CORRECTIONS |
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GRANTS |
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GENERAL NOTE |
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KEYWORDS |
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MESH HEADINGS |
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DESCRIPTORNAME |
QUALIFIERNAME |
Aged |
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Aged, 80 and over |
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Alzheimer Disease |
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Case-Control Studies |
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Dementia |
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Family Health |
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Female |
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Genes, Dominant |
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Humans |
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Inheritance Patterns |
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Lewy Body Disease |
genetics |
Male |
genetics |
Middle Aged |
genetics |
Pedigree |
genetics |
Phenotype |
genetics |
Risk |
genetics |
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SUPPLEMENTARY MESH |
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GENE SYMBOLS |
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CHEMICALS |
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OTHER ID's |
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