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Article

Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2021

Stoiloudis Panagiotis, Parissis Dimitrios, Smyrni Nikoletta, Stardeli Thomai, Afrantou Theodora, Konstantinopoulou Eleni, Grigoriadis Nikolaos, Ioannidis Panagiotis

Abstract excerpt

INTRODUCTION: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, causally related to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We report the unique case of a Greek HDLS patient, demonstrating an unusual phenotype, reminiscent of primary progressive aphasia (PPA). METHODS: A 63-year-old woman was referred with a 2-year history of deteriorating...

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PMID: 33866445
DOI: 10.1007/s10072-021-05257-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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