Chelban, V; Houlden, H; (2024) White matter disorders with cerebral calcification in adulthood. Handbook of Clinical Neurology , 204 pp. 111-131. 10.1016/B978-0-323-99209-1.00024-7.

Text Houlden_Disorders with calcification or brain iron accumulation in adulthood vc1.pdf Access restricted to UCL open access staff Download (532kB)

Abstract

This chapter provides a comprehensive overview of adult-onset leukoencephalopathies with cerebral calcification (CC), emphasizing the importance of age at presentation, systemic clinical features, and neuroimaging patterns for accurate diagnosis. CC is a multifaceted phenomenon associated with various neurologic, developmental, metabolic, and genetic conditions, as well as normal aging. Here, we explore the distinction between primary familial brain calcification (PFBC) and secondary forms, including metabolic and mitochondrial causes. We discuss genetic causes, e.g., SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, NAA60 and JAM2, in the context of autosomal dominant and recessive PFBC and other inherited conditions. The chapter delineates the diagnostic approach involving family history, clinical assessments, and detailed investigations of calcium-phosphate metabolism. Neuroimaging modalities, including computed tomography and magnetic resonance imaging, are crucial for assessing calcification patterns and localizations. Genetic testing, especially next-generation sequencing, plays a pivotal role in providing a final molecular diagnosis. The management of patients with CC encompasses symptomatic treatment and cause-specific approaches, requiring a multidisciplinary care approach. In conclusion, this chapter highlights the complexity of leukoencephalopathies with CC, emphasizing the need for integrated and evolving management to optimize patient care.

Download activity - last month

Export as XMLCSVJSON

Download activity - last 12 months

Export as CSVXMLJSON

Downloads by country - last 12 months

Export as CSVXMLJSON

Archive Staff Only

View Item