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Hereditary diffuse ...
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity
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- Sundal, Christina (author)
- 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 Rehabilitation
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Lash, Jennifer (author)
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Aasly, Jan (author)
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Øygarden, Sarka (author)
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Roeber, Sigrun (author)
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Kretzschman, Hans (author)
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Garbern, James Y. (author)
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Tselis, Alex (author)
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Rademakers, Rosa (author)
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Dickson, Dennis W. (author)
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Broderick, Daniel (author)
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Wszolek, Zbigniew K. (author)
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(creator_code:org_t)
- Elsevier BV, 2012
- 2012
- English.
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In: Journal of the Neurological Sciences. - : Elsevier BV. - 0022-510X .- 1878-5883. ; 314, s. 130-137
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Autosomal dominant
- Cognitive problems
- Depression
- HDLS
- Parkinsonism
- Personality changes
- White matter disease
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Sundal, Christin ...
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Lash, Jennifer
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Aasly, Jan
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Øygarden, Sarka
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Roeber, Sigrun
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Kretzschman, Han ...
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show more...
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Garbern, James Y ...
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Tselis, Alex
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Rademakers, Rosa
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Dickson, Dennis ...
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Broderick, Danie ...
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Wszolek, Zbignie ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Journal of the N ...
- By the university
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University of Gothenburg