Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

@article{Curtis2001MutationIT,
  title={Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease},
  author={Andrew R.J. Curtis and Constanze Fey and Christopher M Morris and Laurence A. Bindoff and Paul G. Ince and Patrick F. Chinnery and Alan Coulthard and Margaret J. Jackson and Andrew P. Jackson and Duncan McHale and David A. Hay and William A. Barker and Alexander F. Markham and David W. Bates and A R J Curtis and John Burn},
  journal={Nature Genetics},
  year={2001},
  volume={28},
  pages={350-354}
}
We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or parkinsonism. We mapped the disorder, by linkage analysis, to 19q13.3, which contains the gene for ferritin light polypeptide (FTL). We found an adenine insertion at position 460–461 that is predicted to alter carboxy-terminal residues of the gene product. Brain histochemistry disclosed abnormal… 
Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation.
Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes a Neurodegenerative Disease Associated with a Mutation in the Ferritin Light Polypeptide Gene
TLDR
This study of this disorder has provided additional knowledge and insights in the growing area of ferritin-related neurodegeneration.
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We report a family of French Canadian and Dutch ancestry with hereditary ferritinopathy (neuroferritinopathy) and a novel mutation (C insertion at nt646-647 in exon 4) in the ferritin light chain
Neuroferritinopathy: a window on the role of iron in neurodegeneration.
TLDR
This rare disease provides evidence of a central role for iron metabolism in neurodegenerative disorders and therapeutic interventions to reduce or reverse brain iron deposition are being evaluated.
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation
[Clinical features of neuroferritinopathy].
TLDR
The findings of excess iron storage and cystic changes involving the globus pallidus and the putamen on brain MRI may help to differentiate neuroferritinopathy from other diseases showing similar clinical features.
Neuroferritinopathy in a French family with late onset dominant dystonia
TLDR
It is suggested that neuroferritinopathy would be a rare disorder in the UK, likely to have been inherited from a single founder, but a careful review of published reports identified a number of potentially similar families outside the United Kingdom, including one family from the north of France.
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References

SHOWING 1-10 OF 24 REFERENCES
Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13
TLDR
In order to gain insight into normal and abnormal brain iron transport, metabolism and function, the approach was to map the gene for HSS, which was confirmed in nine additional families of diverse ethnic backgrounds.
Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.
TLDR
Identification of this kindred extends the spectrum of ceruloplasmin gene mutations resulting in this autosomal recessive, late-onset neurodegenerative disease and highlights the importance of recognizing aceruloplAsminemia as a genetic cause of diabetes and neurologic disease.
Alterations in levels of iron, ferritin, and other trace metals in neurodegenerative diseases affecting the basal ganglia
TLDR
Levels of iron, copper, zinc, manganese, and ferritin are measured in postmortem tissue from patients with progressive supranuclear palsy and multiple system atrophy and Huntington's disease to suggest that altered iron handling may occur in the SN in Parkinson's disease.
Genetic disorders affecting proteins of iron metabolism: clinical implications.
TLDR
The clinical consequences of new insights into the pathophysiology of genetic abnormalities affecting iron metabolism are examined, and proteins recently found to be involved in the absorption, transport, utilization, and storage of iron are briefly described.
Human ferritin genes: chromosomal assignments and polymorphisms.
TLDR
The possibility that gene-family probes that hybridize to many discrete members of dispersed gene families could be used in conjunction with pulsed- or inverted-field gels to screen a large number of specific genomic regions for microdeletions is discussed.
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
TLDR
Organelles that require huntingtin to function suggest roles for the protein in RNA biogenesis, trafficking and iron homeostasis to be explored in HD pathogenesis.
Altered Brain Metabolism of Iron as a Cause of Neurodegenerative Diseases?
TLDR
Some of the experimental evidence indicating a role of disturbed iron metabolism as a cause of the neurodegenerative disorder Parkinson's disease and possibly other neuro degenerative disorders such as Alzheimer's disease are presented.
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.
TLDR
It is demonstrated that fxn functions like Yfh1p, providing experimental support to the hypothesis that FRDA is a disorder of mitochondrial iron homeostasis.
Metals and free radicals in neurodegeneration.
Substantial evidence has accumulated implicating metals and free radicals in the pathogenesis of the major neurodegenerative disorders (Parkinson's disease, Alzheimer's disease, and amyotrophic
Mutational analysis of loading of iron into rat liver ferritin by ceruloplasmin.
  • S. Juan, S. Aust
  • Chemistry, Medicine
    Archives of biochemistry and biophysics
  • 1999
TLDR
Changes made in the H chain to investigate the role of tyrosines involved in an inherent ferroxidase activity thought to be involved in the self-loading of iron into ferritin suggest that this Tyr is involved in ligand exchange for core formation.
...
1
2
3
...