dc.creator | Puschmann, A. | en |
dc.creator | Ross, O. A. | en |
dc.creator | Vilarino-Guell, C. | en |
dc.creator | Lincoln, S. J. | en |
dc.creator | Kachergus, J. M. | en |
dc.creator | Cobb, S. A. | en |
dc.creator | Lindquist, S. G. | en |
dc.creator | Nielsen, J. E. | en |
dc.creator | Wszolek, Z. K. | en |
dc.creator | Farrer, M. | en |
dc.creator | Widner, H. | en |
dc.creator | van Westen, D. | en |
dc.creator | Hagerstrom, D. | en |
dc.creator | Markopoulou, K. | en |
dc.creator | Chase, B. A. | en |
dc.creator | Nilsson, K. | en |
dc.creator | Reimer, J. | en |
dc.creator | Nilsson, C. | en |
dc.date.accessioned | 2015-11-23T10:46:15Z | |
dc.date.available | 2015-11-23T10:46:15Z | |
dc.date.issued | 2009 | |
dc.identifier | 10.1016/j.parkreldis.2009.06.007 | |
dc.identifier.issn | 1353-8020 | |
dc.identifier.uri | http://hdl.handle.net/11615/32543 | |
dc.description.abstract | A de novo alpha-symaclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cognitive decline. Longitudinal clinical follow-up, EEG, SPECT and CSF biomarker examinations suggested an underlying encephalopathy with cortical involvement. The mutated allele (c.209A) was present within a haplotype different from that shared among mutation carriers in the Italian (Contursi) and the Greek-American Family H kindreds. One unaffected family member carried the mutation haplotype without the c.209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G > A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected, but was not associated with disease state. (C) 2009 Elsevier Ltd. All rights reserved. | en |
dc.source | Parkinsonism & Related Disorders | en |
dc.source.uri | <Go to ISI>://WOS:000272073300003 | |
dc.subject | Parkinson disease | en |
dc.subject | Parkinsonian conditions | en |
dc.subject | Autosomal dominant | en |
dc.subject | parkinsonism | en |
dc.subject | Alpha-synuclein | en |
dc.subject | A53T mutation | en |
dc.subject | Ala53Thr | en |
dc.subject | A53T | en |
dc.subject | Biomarkers | en |
dc.subject | CSF examination | en |
dc.subject | Cerebrospinal fluid | en |
dc.subject | Neuroimaging | en |
dc.subject | Longitudinal clinical follow-up | en |
dc.subject | Haplotype analysis | en |
dc.subject | SPECT | en |
dc.subject | Single-photon emission computed tomography | en |
dc.subject | Myoclonus | en |
dc.subject | Electroencephalogram | en |
dc.subject | Magnetic resonance imaging | en |
dc.subject | SPORADIC PARKINSONS-DISEASE | en |
dc.subject | AUTOSOMAL-DOMINANT | en |
dc.subject | ALA53THR MUTATION | en |
dc.subject | GENETIC-ANALYSIS | en |
dc.subject | FEATURES | en |
dc.subject | CRITERIA | en |
dc.subject | TAU | en |
dc.subject | Clinical Neurology | en |
dc.title | A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction | en |
dc.type | journalArticle | en |