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  • Verkkoniemi, Auli (author)

Neuropsychological functions in variant Alzheimer's disease with spastic paraparesis

  • Article/chapterEnglish2004

Publisher, publication year, extent ...

  • Elsevier BV,2004
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-73786
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-73786URI
  • https://doi.org/10.1016/j.jns.2003.10.020DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:1948110URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

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

Notes

  • Few data exist on the effects of specific Alzheimer's disease (AD)-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant Alzheimer's disease (VarAD) due to a deletion of the presenilin 1 (PS-1) gene, encompassing exon 9. The disease was neuropathologically characterized by the presence of large, unusual, "cotton wool" plaques (CWP). Four surviving patients were prospectively tested, and retrospective neuropsychological data were collected from additional four deceased patients. The neuropsychological evaluation was based on tests of verbal and visual memory, abstract thinking, and visuoconstructive and spatial functions. In addition, psychiatric symptoms were evaluated. In four patients, brain glucose metabolism was examined by positron emission tomography (PET). PET showed temporoparietal hypometabolism typical of AD. In addition, variable patterns of hypometabolism (hemispherical asymmetry and occipital accentuation) were related to individual deficits of cognitive performance. However, all these early-onset patients (age range 43-63 years) with a deletion mutation of PS-1 gene showed prominent memory impairment and deficits in visuoconstructive and intellectual functions.

Subject headings and genre

  • Alzheimer Disease/genetics/*physiopathology
  • Brain Mapping
  • Case-Control Studies
  • Cerebral Cortex/anatomy & histology/radionuclide imaging
  • Comparative Study
  • Female
  • Follow-Up Studies
  • Humans
  • Learning/physiology
  • Male
  • Middle Aged
  • Neuropsychological Tests/*statistics & numerical data
  • Orientation/physiology
  • Paraparesis; Spastic/*physiopathology
  • Psychomotor Performance/physiology
  • Research Support; Non-U.S. Gov't
  • Tomography; Emission-Computed/methods
  • Variation (Genetics)
  • Visual Perception/physiology
  • MEDICINE
  • MEDICIN

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

  • Ylikoski, Raija (author)
  • Rinne, Juha O. (author)
  • Somer, Mirja (author)
  • Hietaharju, Aki (author)
  • Erkinjuntti, Timo (author)
  • Viitanen, MattiKarolinska Institutet (author)
  • Kalimo, HannuUppsala universitet,Institutionen för genetik och patologi,Kalimo(Swepub:uu)hakal227 (author)
  • Haltia, Matti (author)
  • Karolinska InstitutetInstitutionen för genetik och patologi (creator_code:org_t)

Related titles

  • In:Journal of the Neurological Sciences: Elsevier BV218:1-2, s. 29-370022-510X1878-5883

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