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

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

doi:10.1007/s10072-021-05257-4

Cited by 3 publications

(1 citation statement)

References 6 publications

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“…The scale considers imaging characteristics that are common in CSF1R ‐related leukoencephalopathy, such as white matter changes and atrophy with a topographical delineation and an overall grading scale score. Additional references from the literature search [62‐107] can be found in the Supplementary materials.…”

Section: Discussionmentioning

confidence: 99%

Neuroimaging phenotypes of CSF1R‐related leukoencephalopathy: Systematic review, meta‐analysis, and imaging recommendations

et al. 2021

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Section: Discussionmentioning

confidence: 99%

Neuroimaging phenotypes of CSF1R‐related leukoencephalopathy: Systematic review, meta‐analysis, and imaging recommendations

et al. 2021

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Modeling CSF‐1 receptor deficiency diseases – how close are we?

2021

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The role of colony stimulating factor-1 receptor (CSF-1R) in macrophage and organismal development has been extensively studied in mouse. Within the last decade mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (BANDDOS), OMIM #618476) and adult [CSF1R-related leukoencephalopathy (CRL), OMIM #221820] onset. Here we review the genetics, penetrance and histopathological features of these diseases and discuss to what extent the animal models of Csf1r deficiency currently available provide systems in which to study the underlying mechanisms involved.

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Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies

Papapetropoulos,

Gelfand,

Konno

et al. 2024

Front. Neurol.

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IntroductionBecause adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal neurodegenerative disease, a rapid and accurate diagnosis is critical. This analysis examined the frequency of initial misdiagnosis of ALSP via comprehensive review of peer-reviewed published cases.MethodsData were extracted from a MEDLINE search via PubMed (January 1, 1980, through March 22, 2022) from eligible published case reports/series for patients with an ALSP diagnosis that had been confirmed by testing for the colony-stimulating factor-1 receptor gene (CSF1R) mutation. Patient demographics, clinical symptoms, brain imaging, and initial diagnosis data were summarized descriptively. Categorical data for patient demographics, symptoms, and brain imaging were stratified by initial diagnosis category to test for differences in initial diagnosis based on each variable.ResultsData were extracted from a cohort of 291 patients with ALSP from 93 published case reports and case series. Mean (standard deviation) age of symptom onset was 43.2 (11.6) years. A family history of ALSP was observed in 59.1% of patients. Cognitive impairment (47.1%) and behavioral and psychiatric abnormalities (26.8%) were the most frequently reported initial symptoms. Of 291 total cases, an accurate initial diagnosis of ALSP was made in 72 cases (24.7%) and the most frequent initial misdiagnosis categories were frontotemporal dementia (28 [9.6%]) and multiple sclerosis (21 [7.2%]). Of the 219 cases (75.3%) that were initially mis- or undiagnosed, 206 cases (94.1%) were later confirmed as ALSP by immunohistology, imaging, and/or genetic testing; for the remaining 13 cases, no final diagnosis was reported. Initial diagnosis category varied based on age, family history, geographic region, mode of inheritance, and presenting symptoms of pyramidal or extrapyramidal motor dysfunction, behavioral and psychiatric abnormalities, cognitive impairment, and speech difficulty. Brain imaging abnormalities were common, and initial diagnosis category was significantly associated with white matter hyperintensities, white matter calcifications, and ventricular enlargement.DiscussionIn this literature analysis, ALSP was frequently misdiagnosed. Improving awareness of this condition and distinguishing it from other conditions with overlapping presenting symptoms is important for timely management of a rapidly progressive disease such as ALSP.

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

Cited by 3 publications

References 6 publications

Neuroimaging phenotypes of CSF1R‐related leukoencephalopathy: Systematic review, meta‐analysis, and imaging recommendations

Neuroimaging phenotypes of CSF1R‐related leukoencephalopathy: Systematic review, meta‐analysis, and imaging recommendations

Modeling CSF‐1 receptor deficiency diseases – how close are we?

Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies

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