A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

Article type: Short Communication

Authors: Di Donato, Ilaria^{a; 1} | Stabile, Carmen^{a; 1} | Bianchi, Silvia^a | Taglia, Ilaria^a | Mignarri, Andrea^a | Salvatore, Simona^a | Giorgio, Elisa^b | Brusco, Alfredo^b | Simone, Isabella^c | Dotti, Maria Teresa^a | Federico, Antonio^{a; *}

Affiliations: [a] Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy | [b] Department of Medical Sciences, University of Turin, Turin, Italy | [c] Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organ, University of Bari, Bari, Italy

Correspondence: [*] Correspondence to: Prof. Antonio Federico, Unit Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy. Tel.: +39 0577 585763; Fax: +39 0577 40327; federico@unisi.it

Note: [] These authors contributed equally to this work.

Abstract: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant cerebral white matter degeneration leading to progressive cognitive and motor dysfunction. The peripheral nervous system is generally spared. Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. Here we report a new case of HDLS, carrying a mutation in CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy.

Keywords: CSF1R, HDLS, leukoencephalopathy, presenile dementia

DOI: 10.3233/JAD-150097

Journal: Journal of Alzheimer's Disease, vol. 47, no. 2, pp. 319-322, 2015