Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction.

Puschmann, Andreas LU orcid ; Ross, Owen A ; Vilariño-Güell, Carles ; Lincoln, Sarah J ; Kachergus, Jennifer M ; Cobb, Stephanie A ; Lindquist, Suzanne G ; Nielsen, Jørgen E ; Wszolek, Zbigniew K and Farrer, Matthew , et al. (2009) In Parkinsonism & Related Disorders 15. p.627-632
Abstract
A de novo alpha-synuclein 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... (More)
A de novo alpha-synuclein 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. (Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; and (Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Parkinsonism & Related Disorders
volume
15
pages
627 - 632
publisher
Elsevier
external identifiers
  • wos:000272073300003
  • pmid:19632874
  • scopus:70350149351
  • pmid:19632874
ISSN
1873-5126
DOI
10.1016/j.parkreldis.2009.06.007
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Neurology, Lund (013027000), Diagnostic Radiology, (Lund) (013038000), Department of Psychogeriatrics (013304000), Restorative Neurology (0131000160), Clinical Neurophysiology (013013001)
id
2688132c-0710-46d7-8019-f4480d73bac0 (old id 1452763)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/19632874?dopt=Abstract
date added to LUP
2016-04-04 08:54:44
date last changed
2025-10-14 12:12:36
@article{2688132c-0710-46d7-8019-f4480d73bac0,
  abstract     = {{A de novo alpha-synuclein 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.}},
  author       = {{Puschmann, Andreas and Ross, Owen A and Vilariño-Güell, Carles and Lincoln, Sarah J and Kachergus, Jennifer M and Cobb, Stephanie A and Lindquist, Suzanne G and Nielsen, Jørgen E and Wszolek, Zbigniew K and Farrer, Matthew and Widner, Håkan and van Westen, Danielle and Hägerström, Douglas and Markopoulou, Katerina and Chase, Bruce A and Nilsson, Karin and Reimer, Jan and Nilsson, Christer}},
  issn         = {{1873-5126}},
  language     = {{eng}},
  pages        = {{627--632}},
  publisher    = {{Elsevier}},
  series       = {{Parkinsonism & Related Disorders}},
  title        = {{A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction.}},
  url          = {{https://lup.lub.lu.se/search/files/5206819/1478652.pdf}},
  doi          = {{10.1016/j.parkreldis.2009.06.007}},
  volume       = {{15}},
  year         = {{2009}},
}