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Disorders of Leukocytes01:27

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Arboviral encephalitis refers to brain inflammation caused by arthropod-borne viruses, particularly those transmitted through mosquito vectors. Among these, West Nile virus (WNV), a member of the Flaviviridae family, is a significant public health concern. WNV is an enveloped, positive-sense, single-stranded RNA virus. Human infection typically begins when an infected mosquito introduces the virus into the dermis during feeding. The primary transmission cycle involves birds as amplifying hosts...
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Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
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Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
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Related Experiment Video

Updated: Apr 30, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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CSF1 receptor-related leukoencephalopathy.

Ikechukwu Chukwuocha1, Simon Ubben2, Mary O'Driscoll3

  • 1Neurology, Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, UK ikechukwu.chukwuocha@nhs.net.

Practical Neurology
|September 5, 2024
PubMed
Summary
This summary is machine-generated.

A rare adult-onset leukodystrophy was diagnosed in a patient with progressive neurological symptoms. Genetic analysis revealed a novel colony-stimulating factor 1 receptor (CSF1R) variant, highlighting its role in leukoencephalopathy.

Keywords:
NEUROGENETICSNEUROPATHOLOGYNEUROPSYCHIATRY

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Area of Science:

  • Neurology
  • Genetics
  • Neuroimaging

Background:

  • Adult-onset leukodystrophies are rare genetic disorders affecting white matter.
  • Colony-stimulating factor 1 receptor (CSF1R) gene mutations are associated with leukoencephalopathy.
  • Clinical presentation can include gait disturbance, cognitive decline, and motor symptoms.

Purpose of the Study:

  • To report a case of adult-onset leukodystrophy.
  • To identify the genetic cause of the patient's neurological condition.
  • To characterize the clinical and neuroimaging findings associated with a novel CSF1R variant.

Main Methods:

  • Clinical assessment of a 51-year-old woman with progressive gait and cognitive difficulties.
  • Magnetic Resonance (MR) brain imaging to evaluate white matter abnormalities.
  • Genetic analysis to identify pathogenic variants in candidate genes.

Main Results:

  • The patient presented with psychomotor slowing, rigidity, dystonia, and bradykinesia.
  • MR brain scans showed multifocal subcortical and periventricular white matter lesions, corpus callosal thinning, and diffusion restriction.
  • Genetic testing identified a heterogenous pathogenic variant in the CSF1R gene, confirming autosomal dominant leukoencephalopathy (OMIM 221820).

Conclusions:

  • This case highlights an unusual presentation of CSF1R-related leukoencephalopathy without a significant family history.
  • CSF1R variants should be considered in the differential diagnosis of adult-onset leukodystrophies.
  • Further research is needed to understand the full spectrum of CSF1R-related leukoencephalopathies.