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

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Standard

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. / Puschmann, Andreas; Ross, Owen A; Vilariño-Güell, Carles; Lincoln, Sarah J; Kachergus, Jennifer M; Cobb, Stephanie A; Lindquist, Suzanne G; Nielsen, Jørgen Erik; Wszolek, Zbigniew K; Farrer, Matthew; Widner, Håkan; van Westen, Danielle; Hägerström, Douglas; Markopoulou, Katerina; Chase, Bruce A; Nilsson, Karin; Reimer, Jan; Nilsson, Christer.

I: Parkinsonism & Related Disorders, Bind 15, Nr. 9, 2009, s. 627-32.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Puschmann, A, Ross, OA, Vilariño-Güell, C, Lincoln, SJ, Kachergus, JM, Cobb, SA, Lindquist, SG, Nielsen, JE, Wszolek, ZK, Farrer, M, Widner, H, van Westen, D, Hägerström, D, Markopoulou, K, Chase, BA, Nilsson, K, Reimer, J & Nilsson, C 2009, 'A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction', Parkinsonism & Related Disorders, bind 15, nr. 9, s. 627-32. https://doi.org/10.1016/j.parkreldis.2009.06.007

APA

Puschmann, A., Ross, O. A., Vilariño-Güell, C., Lincoln, S. J., Kachergus, J. M., Cobb, S. A., Lindquist, S. G., Nielsen, J. E., Wszolek, Z. K., Farrer, M., Widner, H., van Westen, D., Hägerström, D., Markopoulou, K., Chase, B. A., Nilsson, K., Reimer, J., & Nilsson, C. (2009). A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism & Related Disorders, 15(9), 627-32. https://doi.org/10.1016/j.parkreldis.2009.06.007

Vancouver

Puschmann A, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA o.a. A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism & Related Disorders. 2009;15(9):627-32. https://doi.org/10.1016/j.parkreldis.2009.06.007

Author

Puschmann, Andreas ; Ross, Owen A ; Vilariño-Güell, Carles ; Lincoln, Sarah J ; Kachergus, Jennifer M ; Cobb, Stephanie A ; Lindquist, Suzanne G ; Nielsen, Jørgen Erik ; Wszolek, Zbigniew K ; Farrer, Matthew ; Widner, Håkan ; van Westen, Danielle ; Hägerström, Douglas ; Markopoulou, Katerina ; Chase, Bruce A ; Nilsson, Karin ; Reimer, Jan ; Nilsson, Christer. / A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. I: Parkinsonism & Related Disorders. 2009 ; Bind 15, Nr. 9. s. 627-32.

Bibtex

@article{42e9a0a0689411df928f000ea68e967b,
title = "A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction",
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 = "Andreas Puschmann and Ross, {Owen A} and Carles Vilari{\~n}o-G{\"u}ell and Lincoln, {Sarah J} and Kachergus, {Jennifer M} and Cobb, {Stephanie A} and Lindquist, {Suzanne G} and Nielsen, {J{\o}rgen Erik} and Wszolek, {Zbigniew K} and Matthew Farrer and H{\aa}kan Widner and {van Westen}, Danielle and Douglas H{\"a}gerstr{\"o}m and Katerina Markopoulou and Chase, {Bruce A} and Karin Nilsson and Jan Reimer and Christer Nilsson",
note = "Keywords: Adult; Cerebral Cortex; Female; Humans; Intermediate Filament Proteins; Male; Mutation; Parkinson Disease; Pedigree; Polymerase Chain Reaction; Sweden",
year = "2009",
doi = "10.1016/j.parkreldis.2009.06.007",
language = "English",
volume = "15",
pages = "627--32",
journal = "Parkinsonism & Related Disorders",
issn = "1353-8020",
publisher = "Elsevier",
number = "9",

}

RIS

TY - JOUR

T1 - A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

AU - Puschmann, Andreas

AU - Ross, Owen A

AU - Vilariño-Güell, Carles

AU - Lincoln, Sarah J

AU - Kachergus, Jennifer M

AU - Cobb, Stephanie A

AU - Lindquist, Suzanne G

AU - Nielsen, Jørgen Erik

AU - Wszolek, Zbigniew K

AU - Farrer, Matthew

AU - Widner, Håkan

AU - van Westen, Danielle

AU - Hägerström, Douglas

AU - Markopoulou, Katerina

AU - Chase, Bruce A

AU - Nilsson, Karin

AU - Reimer, Jan

AU - Nilsson, Christer

N1 - Keywords: Adult; Cerebral Cortex; Female; Humans; Intermediate Filament Proteins; Male; Mutation; Parkinson Disease; Pedigree; Polymerase Chain Reaction; Sweden

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

U2 - 10.1016/j.parkreldis.2009.06.007

DO - 10.1016/j.parkreldis.2009.06.007

M3 - Journal article

C2 - 19632874

VL - 15

SP - 627

EP - 632

JO - Parkinsonism & Related Disorders

JF - Parkinsonism & Related Disorders

SN - 1353-8020

IS - 9

ER -

ID: 19976926