Title |
Neuroferritinopathy: a new inborn error of iron metabolism
|
---|---|
Published in |
neurogenetics, January 2012
|
DOI | 10.1007/s10048-011-0310-9 |
Pubmed ID | |
Authors |
Michael J. Keogh, Patricia Jonas, Alan Coulthard, Patrick F. Chinnery, John Burn |
Abstract |
Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA. |
Mendeley readers
The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 2% |
Unknown | 45 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 8 | 17% |
Student > Ph. D. Student | 6 | 13% |
Student > Bachelor | 4 | 9% |
Professor > Associate Professor | 4 | 9% |
Student > Doctoral Student | 3 | 7% |
Other | 11 | 24% |
Unknown | 10 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 16 | 35% |
Neuroscience | 5 | 11% |
Agricultural and Biological Sciences | 4 | 9% |
Biochemistry, Genetics and Molecular Biology | 3 | 7% |
Nursing and Health Professions | 2 | 4% |
Other | 4 | 9% |
Unknown | 12 | 26% |