A Rare Genetic Cause of Young Onset Rapidly Progressive Dementia- First Report from India

Area of Science:

• Neurogenetics
• Neuroimaging
• Neurology

Background:

• Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, inherited neurodegenerative disorder.
• Early diagnosis is challenging due to a broad differential diagnosis for young-onset dementia.

Observation:

• A 40-year-old man presented with rapid cognitive decline, Parkinsonism, apraxia, and myoclonus within nine months.
• MRI revealed periventricular white matter changes with persistent diffusion restriction.
• Clinical exome sequencing identified a mutation in the colony stimulating factor 1 receptor (CSF1R) gene.

Findings:

• The patient's clinical presentation, neuroimaging findings, and CSF1R gene mutation are consistent with ALSP.
• This represents the first reported case of ALSP from India.

Implications:

• This case underscores the utility of advanced neuroimaging and genetic analysis in diagnosing rare leukoencephalopathies.
• Accurate diagnosis is crucial for understanding the disease spectrum and potential future therapeutic strategies for ALSP.