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 language and memory deficits, apathy, and two generalized tonic-clonic seizures. Neurological and neuropsychological examination revealed prominent aphasia with a pattern consistent with nonfluent variant of PPA. However, brain MRI disclosed confluent T2 and FLAIR white matter hyperintensities with frontal emphasis, whereas genetic testing corroborated the diagnosis of HDLS. DISCUSSION: PPA-like patterns may rarely develop in the context of HDLS. Prompt diagnosis of this leukoencephalopathy is essential, since preliminary data suggest that it could represent a potentially treatable disorder.
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 HDLSpatient, 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 language and memory deficits, apathy, and two generalized tonic-clonic seizures. Neurological and neuropsychological examination revealed prominent aphasia with a pattern consistent with nonfluent variant of PPA. However, brain MRI disclosed confluent T2 and FLAIR white matter hyperintensities with frontal emphasis, whereas genetic testing corroborated the diagnosis of HDLS. DISCUSSION: PPA-like patterns may rarely develop in the context of HDLS. Prompt diagnosis of this leukoencephalopathy is essential, since preliminary data suggest that it could represent a potentially treatable disorder.
Authors: Alexandra M Nicholson; Matt C Baker; Nicole A Finch; Nicola J Rutherford; Christian Wider; Neill R Graff-Radford; Peter T Nelson; H Brent Clark; Zbigniew K Wszolek; Dennis W Dickson; David S Knopman; Rosa Rademakers Journal: Neurology Date: 2013-02-13 Impact factor: 9.910
Authors: David S Lynch; Zane Jaunmuktane; Una-Marie Sheerin; Rahul Phadke; Sebastian Brandner; Ionnis Milonas; Andrew Dean; Nin Bajaj; Nuala McNicholas; Daniel Costello; Simon Cronin; Chris McGuigan; Martin Rossor; Nick Fox; Elaine Murphy; Jeremy Chataway; Henry Houlden Journal: J Neurol Neurosurg Psychiatry Date: 2015-05-02 Impact factor: 10.154
Authors: T Konno; K Yoshida; T Mizuno; T Kawarai; M Tada; H Nozaki; S-I Ikeda; M Nishizawa; O Onodera; Z K Wszolek; T Ikeuchi Journal: Eur J Neurol Date: 2016-09-29 Impact factor: 6.089