Mitochondrial membrane protein-associated neurodegeneration (MPAN)

Genetics and pathology

• This is usually caused by mutations in the C19orf12 gene
• The SENDS variant is caused by mutations in the WDR45 gene on chromosome Xp
• Most cases are sporadic
• The onset is from childhood
• They cause iron deposition in the basal ganglia
• There is also widespread Lewy body pathology

References

1. Hogarth P, Gregory A, Kruer MC, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 2013; 80:268-275.
2. Doorn JM, Kruer MC. Newly characterized forms of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2013; 13:413. 
3. Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ. BPAN: the only X-linked dominant NBIA disorder. Int Rev Neurobiol 2013; 110:85-90.
4. Ozawa T, Koide R, Nakata Y, et al. A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Am J Med Genet A 2014; 164A:2388-2390.
5. Aminkeng F. WDR45 mutations define a novel disease entity-static encephalopathy of childhood with neurodegeneration in adulthood. Clin Genet 2013; 84:209.
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Related checklists

• Neurodegeneration with brain iron accumulation (NBIA): classification
• Pantethonate kinase associated neurodegeneration (PKAN)
• Neuroferritinopathy
• Aceruloplasminaemia
• Woodhouse-Sakati syndrome
• Pallido-pyramidal syndromes (PPS)