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Träfflista för sökning "WFRF:(Englund Elisabet) srt2:(1995-1999);srt2:(1998)"

Sökning: WFRF:(Englund Elisabet) > (1995-1999) > (1998)

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  • Gustafson, Lars, et al. (författare)
  • A 50-year perspective of a family with chromosome 14-linked Alzheimer’s disease
  • 1998
  • Ingår i: Human Genetics. - : Springer. - 1432-1203. ; 102:3, s. 253-257
  • Tidskriftsartikel (refereegranskat)abstract
    • A Swedish family with two generations suffering from presenile dementia with an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease was inherited through a dominant gene is strongly supported by the follow-up 50years later of three additional generations and molecular genetic findings of a novel presenilin-1 gene mutation in the family. The pedigree contains six cases with well-documented dementia in four consecutive generations. The Alzheimer encephalopathy was unusually severe in the three cases studied post-mortem, with a pronounced involvement of the central grey structures, such as the claustrum, the nuclei around the third ventricle, the central thalamic nuclei and the brain stem. There were no vascular lesions and little amyloid angiopathy. All six affected cases showed the typical temporoparietal symptom pattern and other core symptoms of Alzheimer’s disease, such as logoclonia, myoclonic twitchings and major motor seizures. Other predominant features were psychomotor slowness, increased muscular tension, a stiff stooped gait and a rapid loss of weight. The symptom pattern is convincingly explained by the consistent and severe involvement of cortical and central grey structures and is probably linked to the presenilin-1 gene mutation.
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3.
  • Sundgren, P C, et al. (författare)
  • Adrenoleukodystrophy--unusual CT and MR findings in two siblings. Case reports
  • 1998
  • Ingår i: Acta Radiologica. - : SAGE Publications. - 1600-0455. ; 39:1, s. 77-80
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE: To describe the unusual appearance of adrenoleukodystrophy (ALD) in MR imaging. MATERIAL AND METHODS: An analysis was made of MR findings, histopathology and clinical course in the cases of two brothers with ALD. RESULTS: The older brother presented with frontal contrast-enhanced lesions, including a cyst. These were initially misinterpreted as a tumour at both radiology and pathology. The correct diagnosis was made after the discovery of very-long-chain fatty acids in the blood. The younger brother presented initially with involvement of various segments of the corticospinal tract. CONCLUSION: It is important that the radiologist be aware of the variants of ALD in MR imaging so as to avoid diagnostic mistakes.
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