White matter disorders with cerebral calcification in adulthood

Area of Science:

• Neurology
• Genetics
• Radiology

Background:

• Cerebral calcification (CC) is a complex phenomenon seen in various conditions, including normal aging.
• Distinguishing primary familial brain calcification (PFBC) from secondary causes is crucial for diagnosis.
• Adult-onset leukoencephalopathies present with diverse neurological and systemic features.

Purpose of the Study:

• To provide a comprehensive overview of adult-onset leukoencephalopathies with cerebral calcification (CC).
• To emphasize the diagnostic importance of age at presentation, clinical features, and neuroimaging.
• To explore genetic and metabolic causes of CC, including PFBC.

Main Methods:

• Review of clinical presentations, family history, and calcium-phosphate metabolism.
• Analysis of neuroimaging patterns using CT and MRI.
• Discussion of genetic testing, including next-generation sequencing, for molecular diagnosis.

Main Results:

• Accurate diagnosis relies on integrating age, systemic features, and neuroimaging findings.
• Genetic factors (e.g., SLC20A2, XPR1) are implicated in autosomal dominant and recessive PFBC.
• Neuroimaging is essential for characterizing calcification patterns and localization.

Conclusions:

• Leukoencephalopathies with CC are complex, necessitating a multidisciplinary approach.
• Management involves symptomatic treatment and cause-specific interventions.
• Integrated and evolving management strategies are vital for optimizing patient care.