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

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

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2.
  • 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.
  • Sjöbeck, Martin, et al. (författare)
  • Neuronal loss in the brainstem and cerebellum--part of the normal aging process? A morphometric study of the vermis cerebelli and inferior olivary nucleus
  • 1999
  • Ingår i: Journals of Gerontology. Series A: Biological Sciences & Medical Sciences. - : Oxford University Press. - 1758-535X. ; 54:9, s. 363-368
  • Tidskriftsartikel (refereegranskat)abstract
    • Based on the known age-related loss of Purkinje cells (PC) in the cerebellum, this study focuses on whether a marked loss of PC occurs in individuals of very high age. The inferior olive, which is intimately connected with the cerebellum anatomically as well as functionally, was also studied. The study group included 15 nondemented and basically healthy cases aged 32-104 years. Linear neuronal density was expressed as number of PC per millimeter tissue measured in the vermis and as neuronal numbers per square millimeter tissue in the inferior olive. The linear PC density clearly decreased with increasing age, R2 = 0.82 and p < .001. The inferior olive showed a small but insignificant age-related neuronal loss. We conclude that aging results in reduced PC density in the vermis cerebelli, further accentuated in the very late stages of life.
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4.
  • 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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5.
  • Sundgren, P, et al. (författare)
  • Paragangliomas of the spinal canal
  • 1999
  • Ingår i: Neuroradiology. - : Springer. - 1432-1920. ; 41:10, s. 788-794
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the clinical MRI and histopathological features of five consecutive cases of spinal paraganglioma. Three intradural tumours were found in the typical location (two at the L4, one at the S2 level); one intradural extramedullary tumour arose at an unusual level, from the ventral C2 root, and one extradural tumour growing along the L5 nerve root sheath had an aggressive growth pattern with early, local paraspinal recurrence and, eventually, intradural metastatic spread. This type of growth pattern has not been described previously. Paragangliomas of the spinal canal are more common than previously thought and can be located anywhere along the spine, although the lumbosacral level is the most common. Their appearance on MRI can not distinguish them from other tumours in the spinal canal. Even though paragangliomas in general are benign and slowly growing their growth pattern can vary and be more aggressive, to the point of metastatic spread.
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