title: Biochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids.
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-τ 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.affiliation: Department of Neurology, University Hospital Erlangen, Friedrich-Alexander-University and General Fürth Hospital, Erlangen, Germany Department of Psychiatry, University Hospital Erlangen, Friedrich-Alexander-University, Erlangen, Germany.
authors.forename: Philipp
authors.initials: P
authors.lastname: Spitzer
authors.affiliation: Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-University, Erlangen, Germany.
authors.forename: Zacharias
authors.initials: Z
authors.lastname: Kohl
authors.affiliation: Department of Neuroradiology, University Hospital Erlangen, Friedrich-Alexander-University, Erlangen, Germany.
authors.forename: Philipp
authors.initials: P
authors.lastname: Gölitz
authors.affiliation: Department of Neuropathology, University Hospital Erlangen, Friedrich-Alexander-University, Erlangen, Germany.
authors.forename: Roland
authors.initials: R
authors.lastname: Coras
authors.affiliation: Department of Neuropathology, University Hospital Erlangen, Friedrich-Alexander-University, Erlangen, Germany.
authors.forename: Ingmar
authors.initials: I
authors.lastname: Blümcke
authors.affiliation: Department of Neuropathology, University Hospital Göttingen, Göttingen, Germany.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Brück
authors.affiliation: Department of Neuroradiology, University Hospital Erlangen, Friedrich-Alexander-University, Erlangen, Germany.
authors.forename: Arnd
authors.initials: A
authors.lastname: Dörfler
authors.affiliation: Department of Neurology, University Hospital Erlangen, Friedrich-Alexander-University and General Fürth Hospital, Erlangen, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Maihöfner
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000134:cerebrospinal fluid; D001706:Biopsy; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D056784:Leukoencephalopathies / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000473:pathology; D008279:Magnetic Resonance Imaging; D059906:Neuroimaging
chemical_list: D015415:Biomarkers