Sökning: onr:"swepub:oai:gup.ub.gu.se/273065" > Hereditary diffuse ...
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000 | 03577naa a2200493 4500 | |
001 | oai:gup.ub.gu.se/273065 | |
003 | SwePub | |
008 | 240528s2012 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/2730652 URI |
024 | 7 | a https://doi.org/10.1016/j.jns.2011.10.0062 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Sundal, Christinau Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation4 aut0 (Swepub:gu)xsuchr |
245 | 1 0 | a Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity |
264 | 1 | b Elsevier BV,c 2012 |
520 | a Hereditary diffuse leukoencephalopathy with spheroids (HDLS) was originally described in a large Swedish pedigree. Since then, 22 reports describing a total of 13 kindreds and 11 sporadic cases have been published. Inheritance is autosomal dominant, albeit the gene is unknown. Here we report on the clinical findings, genealogical data, brain MRI data, and autopsy/biopsy findings of four probands from three independently ascertained novel families from Norway, Germany and US. We identified a 39-year-old female and her twin sister, a 52-year-old male and a 47-year-old male with progressive neurological illness characterized by personality changes, cognitive decline and motor impairments, such as gait problems, bradykinesia, tremor and rigidity. Brain MRI showed white matter abnormalities with frontal prominence. Brain biopsy/autopsies were consistent with HDLS. HDLS is an under-recognized disease and in reporting these cases, we aim to increase the awareness of the disorder. Due to varied and wide phenotypic presentations, which may imitate several neurodegenerative diseases, HDLS can be difficult to diagnose. Definitive diagnosis can be established only by direct brain tissue examination. Familiarity with the clinical presentation and typical neuroimaging findings may be helpful in narrowing the diagnosis. © 2011 Elsevier B.V. All rights reserved. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
653 | a Autosomal dominant | |
653 | a Cognitive problems | |
653 | a Depression | |
653 | a HDLS | |
653 | a Parkinsonism | |
653 | a Personality changes | |
653 | a White matter disease | |
700 | 1 | a Lash, Jennifer4 aut |
700 | 1 | a Aasly, Jan4 aut |
700 | 1 | a Øygarden, Sarka4 aut |
700 | 1 | a Roeber, Sigrun4 aut |
700 | 1 | a Kretzschman, Hans4 aut |
700 | 1 | a Garbern, James Y.4 aut |
700 | 1 | a Tselis, Alex4 aut |
700 | 1 | a Rademakers, Rosa4 aut |
700 | 1 | a Dickson, Dennis W.4 aut |
700 | 1 | a Broderick, Daniel4 aut |
700 | 1 | a Wszolek, Zbigniew K.4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering4 org |
773 | 0 | t Journal of the Neurological Sciencesd : Elsevier BVg 314, s. 130-137q 314<130-137x 0022-510Xx 1878-5883 |
856 | 4 | u https://europepmc.org/articles/pmc3275663?pdf=render |
856 | 4 8 | u https://gup.ub.gu.se/publication/273065 |
856 | 4 8 | u https://doi.org/10.1016/j.jns.2011.10.006 |
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