Mitochondrial membrane protein-associated neurodegeneration (MPAN)
Evidence-based neurology checklist on 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…
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
Clinical features
Progression
Associated features
Magnetic resonance imaging (MRI)
Terminology
References
- Hogarth P, Gregory A, Kruer MC, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 2013; 80:268-275.
- Doorn JM, Kruer MC. Newly characterized forms of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2013; 13:413.
- 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.
- 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.
- Aminkeng F. WDR45 mutations define a novel disease entity-static encephalopathy of childhood with neurodegeneration in adulthood. Clin Genet 2013; 84:209.
- And 7 more. Subscribe to see the full list
