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

Puschmann, Andreas LU ; 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)
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published
subject
in
Parkinsonism & Related Disorders
volume
15
pages
627 - 632
publisher
Elsevier
external identifiers
  • wos:000272073300003
  • pmid:19632874
  • scopus:70350149351
ISSN
1873-5126
DOI
10.1016/j.parkreldis.2009.06.007
language
English
LU publication?
yes
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2688132c-0710-46d7-8019-f4480d73bac0 (old id 1452763)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/19632874?dopt=Abstract
date added to LUP
2009-08-05 10:32:49
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2017-11-19 04:19:03
@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          = {http://dx.doi.org/10.1016/j.parkreldis.2009.06.007},
  volume       = {15},
  year         = {2009},
}