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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
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Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis
Christina Sundal1,2, Matt Baker3, Virginija Karrenbauer4
1Department of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.
European Journal of Neurology
|October 15, 2014
Summary
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) can mimic primary progressive multiple sclerosis (PPMS). Genetic testing for Colony Stimulating Factor 1 Receptor (CSF1R) mutations can help diagnose HDLS in PPMS patients with a family history of neurological disorders.
Area of Science:
- Neurology
- Genetics
- White Matter Disorders
Background:
- Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare, inherited white matter disease.
- HDLS presents with varied neurological and psychiatric symptoms.
- Colony stimulating factor 1 receptor (CSF1R) gene mutations are implicated in HDLS.
Purpose of the Study:
- Investigate CSF1R mutations in primary progressive multiple sclerosis (PPMS) patients.
- Report clinical findings in a family with a novel CSF1R mutation.
- Differentiate HDLS from PPMS.
Main Methods:
- Sequenced CSF1R exons 12-22 in 220 PPMS patients.
- Analyzed Swedish and Norwegian national multiple sclerosis registries.
- Clinical and genetic evaluation of affected family members.
Main Results:
- Identified a novel CSF1R mutation (c.2562T>A; p.Asn854Lys) in one PPMS patient.
- The patient presented with pyramidal weakness, WM lesions, and cognitive decline.
- Family history revealed multiple relatives with neurological disorders, including PPMS, carrying the CSF1R mutation.
Conclusions:
- Chronic HDLS can clinically resemble PPMS.
- Genetic testing for CSF1R mutations is valuable for diagnosing HDLS in PPMS patients with a family history.
- Early diagnosis of HDLS is crucial for appropriate management.
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