Biochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids

Spitzer P, Kohl Z, Gölitz P, Coras R, Blümcke I, Brueck W, Dörfler A, Maihöfner C (2014)

Publication Type: Journal article

Publication year: 2014

Journal

BMJ Case Reports BMJ Publishing Group

Book Volume: 2014

DOI: 10.1136/bcr-2012-008510

Abstract

Hereditary diffuse leucoencephalopathy with spheroids (HDLS) is a rare autosomal dominantly inherited disease with unknown pathophysiology. Diagnosis of neurodegenerative diseases is increasingly based on biomarkers. Although lumbar puncture is routinely performed during the diagnostic workup of HDLS, reports on alterations of neurodegeneration-specific biochemical markers have not been documented so far. We report a 35-year-old woman with clinical, radiological and neuropathological signs of HDLS. She suffered from a rapidly progressive frontal lobe syndrome. Brain MRI revealed diffuse leucoencephalopathy with predominant involvement of the periventricular white matter and corpus callosum. Although she was severely impaired and leucoencephalopathy was prominent, only cerebrospinal fluid total-? was moderately elevated. Other markers of neuronal (NSE) and astrocytic (S100B) damage were within normal range. Therefore, biochemical markers of central nervous system damage are not helpful in the diagnosis of HDLS.

Authors with CRIS profile

Philipp Spitzer Department of Psychiatry and Psychotherapy Zacharias Kohl Department of Molecular Neurology Philipp Gölitz Medizinische Fakultät Roland Coras Institute of Neuropathology Ingmar Blümcke Lehrstuhl für Neuropathologie Arnd Dörfler Department of Neuroradiology Christian Maihöfner Medizinische Fakultät

Involved external institutions

Georg-August-Universität Göttingen DE Germany (DE)

How to cite

APA:

Spitzer, P., Kohl, Z., Gölitz, P., Coras, R., Blümcke, I., Brueck, W.,... Maihöfner, C. (2014). Biochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids. BMJ Case Reports, 2014. https://doi.org/10.1136/bcr-2012-008510

MLA:

Spitzer, Philipp, et al. "Biochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids." BMJ Case Reports 2014 (2014).

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