Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review

Zhuang, Lv-Ping; Liu, Changyun; Li, Yuanxiao; Huang, Huaping; Zou, Zhang‐Yu

doi:10.21037/atm.2019.12.17

Cited by 29 publications

(29 citation statements)

References 14 publications

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“…Moreover, the newly deployed containment measures, such as increased testing, contact tracing, isolation of confirmed cases, quarantine of contact and suspected cases and nonpharmacological interventions like social distancing, staying in home, working from home, self-monitoring, public awareness, self-quarantine are likely to impede (slow down) the actual epidemic growth, but will not stop it. 16 , 17 For instance, the initial most affected countries, such as China and South Korea, could contain disease spread by deploying liberal population testing, strict quarantine of people under investigation, and isolation of the positive cases. 17 …”

Section: Introductionmentioning

confidence: 99%

Knowledge, Attitude and Practice Toward COVID-19 Pandemic Among Population Visiting Dessie Health Center for COVID-19 Screening, Northeast Ethiopia

Gebretsadik¹,

Tekele²,

Belete³

2021

IDR

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Background Coronavirus 2019 (COVID-19) is currently a global health threat and an international public health emergency. As of 21 January 2021, 97.8 million cases with more than two million deaths were recorded worldwide while in Ethiopia 132,326 confirmed cases and 2057 deaths were reported. Hence, the aim of the present study was to determine the magnitude of knowledge, attitude, and practice toward COVID-19 among the population who visited the health center for COVID-19 screening. Methods A health institution-based cross-sectional study was conducted among the 384 study population visiting Dessie health center for COVID-19 screening from September 1, to October 21, 2020 using a simple random sampling technique. A structured questionnaire was used to obtain information related to sociodemographic characteristics, Knowledge (eleven questions), attitude (six questions) and practice (nin questions). Both bivariable and multivariable logistic regression analyses with a 95% confidence interval were used to identify factors associated with poor knowledge and practice. A P -value of <0.05 was considered statistically significant. Results Out of the total study participants 61.5% were males, 52.6% of them were aged between 30 and 49 years and 85.2% of them were living in urban areas. The magnitude of poor knowledge and poor practice was 187 (48.7%) and 160 (41.7%), respectively. Poor knowledge had statistically significant association with Illiteracy (AOR= 5.53, 95%CI= 1.03-29.68, P = 0.046) and having no contact history (AOR=0.39, 95%CI=0.21–0.73, P =0.003). Statistically significant association existed between poor practice and parameters which addressed educational status, travel history, and poor knowledge level of study participants. Conclusion Alarmingly high poor knowledge, negatively skewed attitude, and poor practice regarding the COVID-19 pandemic was indicated. Therefore, health education programs aimed at mobilizing and improving COVID-19-related knowledge, attitude, and practice are urgently needed, especially for those who are illiterate, having travel and contact history, or generally among underprivileged populations.

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Section: Introductionmentioning

confidence: 99%

Knowledge, Attitude and Practice Toward COVID-19 Pandemic Among Population Visiting Dessie Health Center for COVID-19 Screening, Northeast Ethiopia

Gebretsadik¹,

Tekele²,

Belete³

2021

IDR

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“…36 The second CSF+/PET+ patient with a low score for AD pathology (A1B1C0) was diagnosed with HDLS, an autosomal-dominant white matter disease due to mutations in the gene encoding colony-stimulating factor 1 receptor (CSF1R). 37 Previous case reports of HDLS including CSF analyses have provided no evidence for alterations in Ab 42 levels. 38,39 It is also unlikely that preanalytical assay effects caused the decrease of CSF Ab 42 in this case as the patient had a separate CSF Ab 42 sample with decreased Ab 42 4 months earlier.…”

Section: Discussionmentioning

confidence: 96%

“…The patient was also diagnosed with CAA‐Type 1 stage 2, which could also contribute to the amyloid positivity, as CAA has been shown to affect both amyloid‐ β PET tracer uptake 35 and CSF A β 42 levels 36 . The second CSF+/PET+ patient with a low score for AD pathology (A1B1C0) was diagnosed with HDLS, an autosomal‐dominant white matter disease due to mutations in the gene encoding colony‐stimulating factor 1 receptor (CSF1R) 37 . Previous case reports of HDLS including CSF analyses have provided no evidence for alterations in A β 42 levels 38,39 .…”

Section: Discussionmentioning

confidence: 99%

Amyloid‐β PET and CSF in an autopsy‐confirmed cohort

Reimand

Boon

Collij

et al. 2020

Ann Clin Transl Neurol

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Objective: Accumulation of amyloid-b is among the earliest changes in Alzheimer's disease (AD). Amyloid-b positron emission tomography (PET) and Ab 42 in cerebrospinal fluid (CSF) both assess amyloid-b pathology in-vivo, but 10-20% of cases show discordant (CSF+/PETÀ or CSF-/PET+) results. The neuropathological correspondence with amyloid-b CSF/PET discordance is unknown. Methods: We included 21 patients from our tertiary memory clinic who had undergone both CSF Ab 42 analysis and amyloid-b PET, and had neuropathological data available. Amyloid-b PET and CSF results were compared with neuropathological ABC scores (comprising of Thal (A), Braak (B), and CERAD (C) stage, all ranging from 0 [low] to 3 [high]) and neuropathological diagnosis. Results: Neuropathological diagnosis was AD in 11 (52%) patients. Amyloid-b PET was positive in all A3, C2, and C3 cases and in one of the two A2 cases. CSF Ab 42 was positive in 92% of ≥A2 and 90% of ≥C2 cases. PET and CSF were discordant in three of 21 (14%) cases: CSF+/PETÀ in a patient with granulomatosis with polyangiitis (A0B0C0), CSF+/PETÀ in a patient with FTLD-TDP type B (A2B1C1), and CSF-/PET+ in a patient with AD (A3B3C3). Two CSF+/PET+ cases had a non-AD neuropathological diagnosis, that is FTLD-TDP type E (A3B1C1) and adult-onset leukoencephalopathy with axonal spheroids (A1B1C0). Interpretation: Our study demonstrates neuropathological underpinnings of amyloid-b CSF/PET discordance. Furthermore, amyloid-b biomarker positivity on both PET and CSF did not invariably result in an AD diagnosis at autopsy, illustrating the importance of considering relevant comorbidities when evaluating amyloid-b biomarker results.

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“…CSF1R -related leukoencephalopathy may be misdiagnosed as frontotemporal dementia or dementia with Lewy bodies, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), or primary progressive multiple sclerosis (MS), due to the overlapping clinical features and magnetic resonance imaging (MRI) abnormalities [ 8 – 10 ]. The age of disease onset in patients with CSF1R -related leukoencephalopathy varies from 10 to 78 years old with an average age of 43 years [ 4 , 11 ]. The average survival is reported from 5.3 to 6.8 years [ 8 , 12 ] but with rather wide range from 2 to 34 years [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

“…It is acknowledged that CSF1R -related leukoencephalopathy is caused by dysfunctional microglia, and that different mutation locations of the CSF1R gene lead to different clinical phenotypes of CSF1R -related leukoencephalopathy, with both disease presentation and progression varying significantly among family members [ 30 , 31 ]. Although CSF1R -related leukoencephalopathy is a genetic disease inherited in an autosomal dominant pattern, approximately 36% of cases are sporadic [ 11 ]. This can be partly explained by the formation of mosaicism occurred at any cell division, allowing for survival and causing discrepancies of clinical phenotypes [ 32 ].…”

Section: Introductionmentioning

confidence: 99%

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy

Han

Sarlus

Wszołek

et al. 2020

acta neuropathol commun

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CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by colony stimulating factor 1 receptor (CSF1R) gene mutations. The disease has a global distribution and currently has no cure. Individuals with CSF1R-related leukoencephalopathy variably present clinical symptoms including cognitive impairment, progressive neuropsychiatric and motor symptoms. CSF1R is predominantly expressed on microglia within the central nervous system (CNS), and thus CSF1R-related leukoencephalopathy is now classified as a CNS primary microgliopathy. This urgent unmet medical need could potentially be addressed by using microglia-based immunotherapies. With the rapid recent progress in the experimental microglial research field, the replacement of an empty microglial niche following microglial depletion through either conditional genetic approaches or pharmacological therapies (CSF1R inhibitors) is being studied. Furthermore, hematopoietic stem cell transplantation offers an emerging means of exchanging dysfunctional microglia with the aim of reducing brain lesions, relieving clinical symptoms and prolonging the life of patients with CSF1R-related leukoencephalopathy. This review article introduces recent advances in microglial biology and CSF1R-related leukoencephalopathy. Potential therapeutic strategies by replacing microglia in order to improve the quality of life of CSF1R-related leukoencephalopathy patients will be presented.

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Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review

Cited by 29 publications

References 14 publications

Knowledge, Attitude and Practice Toward COVID-19 Pandemic Among Population Visiting Dessie Health Center for COVID-19 Screening, Northeast Ethiopia

Knowledge, Attitude and Practice Toward COVID-19 Pandemic Among Population Visiting Dessie Health Center for COVID-19 Screening, Northeast Ethiopia

Amyloid‐β PET and CSF in an autopsy‐confirmed cohort

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy

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