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Altered CSF levels of monoamines in hereditary spastic paraparesis 10 A case series

Journal article
Authors M. Andreasson
K. Lagerstedt-Robinson
K. Samuelsson
G. Solders
Kaj Blennow
M. Paucar
P. Svenningsson
Published in Neurology-Genetics
Volume 5
Issue 4
ISSN 2376-7839
Publication year 2019
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience
Language en
Keywords kif5a, mutations, kinesin, Genetics & Heredity, Neurosciences & Neurology
Subject categories Neurosciences


Objective To perform a comprehensive clinical characterization and biochemical CSF profile analyses in 2 Swedish families with hereditary spastic paraparesis (HSP) 10 (SPG10) caused by 2 different mutations in the neuronal kinesin heavy chain gene (KIF5A). Methods Structured clinical assessment, genetic studies, and neuroradiologic and electrophysiological evaluations were performed in 4 patients from 2 families with SPG10. Additional CSF analysis was conducted in 3 patients with regard to levels of neurodegenerative markers and monoamine metabolism. Results All patients exhibited a complex form of HSP with a mild to moderate concurrent axonal polyneuropathy. The heterozygous missense mutations c.767A>G and c.967C>T in KIF5A were found. Wide intrafamilial phenotype variability was evident in both families. CSF analysis demonstrated a mild elevation of neurofilament light (NFL) chain in the patient with longest disease duration. Unexpectedly, all patients exhibited increased levels of the dopamine metabolite, homovanillic acid, whereas decreased levels of the noradrenergic metabolite, 3-methoxy-4-hydroxyphenylglycol, were found in 2 of 3 patients. Conclusions We report on CSF abnormalities in SPG10, demonstrating that NFL elevation is not a mandatory finding but may appear after long-standing disease. Impaired transportation of synaptic proteins may be a possible explanation for the increased dopaminergic turnover and noradrenergic deficiency identified. The reasons for these selective abnormalities, unrelated to obvious clinical features, remain to be explained. Our findings need further confirmation in larger cohorts of patients harboring KIF5A mutations.

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Utskriftsdatum: 2019-11-20