Adult-onset basal ganglia disease
- Adult-onset basal ganglia disease
-
| Adult-onset basal ganglia disease |
| Classification and external resources |
| OMIM |
606159 |
Adult-onset basal ganglia disease or neuroferritinopathy is a disorder caused by abnormal iron accumulation in the basal ganglia due to mutations in FTL gene. The gene codes for the light chain of human ferritin protein complex that stores intracellular iron, keeping it from harming the body.
The disease was first described in 2001[1] and is thought to be more common in Cumbria due to founder effect.
Genetically related
Other FTL mutations are known to cause hyperferritinemia-cataract syndrome (OMIM 600886).
See also
External links
References
- ^ Curtis, AR; Fey, C; Morris, CM; Bindoff, LA; Ince, PG; Chinnery, PF; Coulthard, A; Jackson, MJ et al. (2001). "Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease". Nature genetics 28 (4): 350–4. doi:10.1038/ng571. PMID 11438811.
Categories:
- Neurological disorders
- Disease stubs
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