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  • Puschmann, AndreasLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine (author)

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

  • Article/chapterEnglish2009

Publisher, publication year, extent ...

  • Elsevier BV,2009
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:2688132c-0710-46d7-8019-f4480d73bac0
  • https://lup.lub.lu.se/record/1452763URI
  • https://doi.org/10.1016/j.parkreldis.2009.06.007DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Ross, Owen A (author)
  • Vilariño-Güell, Carles (author)
  • Lincoln, Sarah J (author)
  • Kachergus, Jennifer M (author)
  • Cobb, Stephanie A (author)
  • Lindquist, Suzanne G (author)
  • Nielsen, Jørgen E (author)
  • Wszolek, Zbigniew K (author)
  • Farrer, Matthew (author)
  • Widner, HåkanLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)mphy-hwi (author)
  • van Westen, DanielleLund University,Lunds universitet,Diagnostisk radiologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neuroradiologi,Forskargrupper vid Lunds universitet,Diagnostic Radiology, (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Neuroradiology,Lund University Research Groups(Swepub:lu)ront-dva (author)
  • Hägerström, DouglasLund University,Lunds universitet,Klinisk neurofysiologi,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Clinical Neurophysiology,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)knfl-dha (author)
  • Markopoulou, Katerina (author)
  • Chase, Bruce A (author)
  • Nilsson, KarinLund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-kan (author)
  • Reimer, JanLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Wallenberg Neurocentrum, Lund,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Wallenberg Neuroscience Centre, Lund(Swepub:lu)neur-jre (author)
  • Nilsson, ChristerLund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)neur-cni (author)
  • Neurologi, LundSektion IV (creator_code:org_t)

Related titles

  • In:Parkinsonism & Related Disorders: Elsevier BV15, s. 627-6321873-51261353-8020

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