Rare neurodegenerative disease

Orphanet code 182070 corresponds to Neurodegeneration with Brain Iron Accumulation type 5 (NBIA5), also known as beta-propeller protein-associated neurodegeneration (BPAN) or static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). This is a rare neurodegenerative disorder caused by mutations in the WDR45 gene located on the X chromosome. BPAN is characterized by a biphasic clinical course: during childhood, affected individuals present with global developmental delay, intellectual disability, seizures, and limited speech acquisition that remain relatively stable. In adolescence or early adulthood, patients experience progressive neurological decline including dystonia, parkinsonism, dementia, and spasticity. The disease primarily affects the central nervous system, with characteristic iron accumulation in the substantia nigra and globus pallidus visible on brain MRI. Additional features may include disordered sleep, stereotypic hand movements, and eye movement abnormalities. Although BPAN occurs in both males and females, it is more frequently identified in females, likely because hemizygous males may experience more severe or lethal presentations. There is currently no cure or disease-modifying treatment for BPAN. Management is symptomatic and supportive, including antiepileptic medications for seizure control, dopaminergic agents or other medications for dystonia and parkinsonism, and rehabilitative therapies such as physical, occupational, and speech therapy. Iron chelation therapy has been explored but has not demonstrated clear clinical benefit. Research into the underlying mechanisms of WDR45-related autophagy dysfunction is ongoing and may lead to future therapeutic targets.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Rare neurodegenerative disease