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Phenotypic variatio...
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.
- Artikel/kapitelEngelska2007
Förlag, utgivningsår, omfång ...
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2007-01-24
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Ovid Technologies (Wolters Kluwer Health),2007
Nummerbeteckningar
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LIBRIS-ID:oai:lup.lub.lu.se:fef0bfeb-5c01-4470-ad57-003c8a07f7bb
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https://lup.lub.lu.se/record/164655URI
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https://doi.org/10.1212/01.wnl.0000254458.17630.c5DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
Anmärkningar
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Background: The " Lister family complex," an extensive Swedish family with autosomal dominant Parkinson disease, was first described by Henry Mjones in 1949. On the basis of clinical, molecular, and genealogic findings on a Swedish and an American family branch, we provide genetic evidence that explains the parkinsonism in this extended pedigree. Methods: Clinical methods included a detailed neurologic exam of the proband of the Swedish family branch, MRI, and ([ 123] I) - beta - CIT SPECT imaging. Genomic analysis included alpha-synuclein sequencing, SNCA real-time PCR dosage, chromosome 4q21 microsatellite analysis, and high-resolution microarray genotyping. The geographic origin and ancestral genealogy of each pedigree were researched in the medical literature and Swedish Parish records. Results: The proband of the Swedish family branch presented with early dysautonomia followed by progressive parkinsonism suggestive of multiple system atrophy. Molecular analysis identified a genomic duplication of < 0.9 Mb encompassing alpha-synuclein and multimerin 1 ( SNCA- MMRN1), flanked by long interspersed repeat sequences ( LINE L1). Microsatellite variability within the genomic interval was identical to that previously described for a Swedish American family with an alpha- synuclein triplication. Subsequent genealogic investigation suggested that both kindreds are ancestrally related to the Lister family complex. Conclusion: Our findings extend clinical, genetic, and genealogical research on the Lister family complex. The genetic basis for familial parkinsonism is an SNCA- MMRN11 multiplication, but whereas SNCA- MMRN1 duplication in the Swedish proband ( Branch J) leads to late- onset autonomic dysfunction and parkinsonism, SNCA- MMRN1 triplication in the Swedish American family ( Branch I) leads to early- onset Parkinson disease and dementia.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Nilsson, ChristerLund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)neur-cni
(författare)
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Kachergus, J
(författare)
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Munz, M
(författare)
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Larsson, Elna-MarieLund University,Lunds universitet,Diagnostisk radiologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Diagnostic Radiology, (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)drad-eml
(författare)
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Schule, B
(författare)
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Langston, J W
(författare)
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Middleton, F A
(författare)
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Ross, O A
(författare)
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Hulihan, M
(författare)
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Gasser, T
(författare)
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Farrer, M J
(författare)
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Psykiatri, LundSektion IV
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Neurology: Ovid Technologies (Wolters Kluwer Health)68:12, s. 916-9221526-632X0028-3878
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Fuchs, J
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Nilsson, Christe ...
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Kachergus, J
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Munz, M
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Larsson, Elna-Ma ...
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Schule, B
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visa fler...
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Langston, J W
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Middleton, F A
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Ross, O A
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Hulihan, M
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Gasser, T
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Farrer, M J
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