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In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
Published on: June 15, 2018
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Motor neuronopathy in Chediak-Higashi syndrome
S Mathis1, P Cintas2, G de Saint-Basile3
1Department of Neurology, CHU Poitiers, University of Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France.
Journal of the Neurological Sciences
|July 22, 2014
Summary
Chediak-Higashi syndrome, typically causing infections and albinism, rarely presents with neurological issues. This study details two sisters with progressive motor neuronopathy and abnormal lipofuscin accumulation in sural nerve biopsies.
Area of Science:
- Genetics and rare diseases
- Neurology
- Cell biology
Background:
- Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder.
- Characterized by oculocutaneous albinism, recurrent infections, and giant lysosomal granules in leukocytes.
- Neurological manifestations are uncommon in CHS.
Observation:
- Two sisters presented with a slowly progressive motor neuronopathy.
- One patient exhibited a Babinski sign, indicative of upper motor neuron involvement.
- Sural nerve biopsy revealed abnormal endoneurial accumulation of lipofuscin granules.
Findings:
- The study highlights a rare neurological phenotype in CHS.
- Abnormal endoneurial lipofuscin accumulation is identified as a potential pathological feature.
- This suggests a possible link between CHS pathophysiology and neurodegeneration.
Implications:
- These findings expand the known clinical spectrum of Chediak-Higashi syndrome.
- Understanding the neurological aspects of CHS may lead to improved diagnosis and management.
- Further research into lipofuscin accumulation in CHS-related neuropathy is warranted.
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