Skin Biopsy Used for the Diagnosis of Hereditary Diffuse Leukoencephalopathy With Spheroids
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201684
Abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare leukodystrophy of the CNS. We present 2 patients from unrelated families with late-onset HDLS. Patient 1 was a 50-year-old woman who developed blurred speech and difficult… read more here.
Keywords: leukoencephalopathy spheroids; hereditary diffuse; diffuse leukoencephalopathy; biopsy ... See more keywords
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation
Sign Up to like & getrecommendations! Published in 2017 at "Magnetic Resonance in Medical Sciences"
DOI: 10.2463/mrms.mp.2016-0016
Abstract: Purpose: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant… read more here.
Keywords: hereditary diffuse; asymptomatic carriers; diffuse leukoencephalopathy; spectroscopy ... See more keywords