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Corticobasal and at...
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
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Lindquist, SG (författare)
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Duno, M (författare)
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Batbayli, M (författare)
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visa fler...
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- Puschmann, Andreas (författare)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups
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Braendgaard, H (författare)
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Mardosiene, S (författare)
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Svenstrup, K (författare)
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Pinborg, LH (författare)
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Vestergaard, K (författare)
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Hjermind, LE (författare)
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Stokholm, J (författare)
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Andersen, BB (författare)
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Johannsen, P (författare)
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Nielsen, J (författare)
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(creator_code:org_t)
- 2013-04-19
- 2013
- Engelska.
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Ingår i: Clinical Genetics. - : Wiley. - 0009-9163. ; 83:3, s. 279-283
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21-linked frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS). We here report the prevalence of the expansion in a hospital-based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat-primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD-ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD-ALS disorders. There was no indication of a modifying effect of the ATXN2 gene.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Amyotrophic lateral sclerosis
- corticobasal degeneration
- frontotemporal dementia
- gait disorders/ataxia
- genetics
- neurodegeneration
- parkinsonism
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- art (ämneskategori)
- ref (ämneskategori)
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- Av författaren/redakt...
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Lindquist, SG
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Duno, M
-
Batbayli, M
-
Puschmann, Andre ...
-
Braendgaard, H
-
Mardosiene, S
-
visa fler...
-
Svenstrup, K
-
Pinborg, LH
-
Vestergaard, K
-
Hjermind, LE
-
Stokholm, J
-
Andersen, BB
-
Johannsen, P
-
Nielsen, J
-
visa färre...
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