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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity
Christina Sundal1, Jennifer Lash, Jan Aasly
1Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Journal of the Neurological Sciences
|November 5, 2011
Summary
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an under-recognized autosomal dominant neurological disorder. New cases highlight its varied symptoms and the need for increased awareness and diagnostic consideration.
Area of Science:
- Neurology
- Genetics
- Neuroscience
Background:
- Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare, autosomal dominant neurological disorder.
- The genetic basis of HDLS remains unknown despite previous case reports.
Observation:
- This study details four individuals from three novel families presenting with progressive neurological decline.
- Clinical manifestations included personality changes, cognitive decline, and motor impairments like gait issues, bradykinesia, tremor, and rigidity.
- Brain MRI revealed white matter abnormalities, particularly in the frontal lobes.
Findings:
- Autopsy and biopsy findings confirmed Hereditary diffuse leukoencephalopathy with spheroids (HDLS).
- The reported cases expand the known spectrum of HDLS presentation.
- Diagnosis can be challenging due to overlapping symptoms with other neurodegenerative diseases.
Implications:
- Increased awareness of HDLS is crucial for earlier diagnosis and management.
- Familiarity with clinical and neuroimaging features can aid in differentiating HDLS from other conditions.
- Direct brain tissue examination remains the definitive diagnostic method for HDLS.
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