Related resources
Full-text held externally
- PMID: 22508347
- UKPMCID: 22508347
- DOI: 10.1002/mds.24980
Search for item elsewhere
University researcher(s)
Academic department(s)
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Horvath, Rita; Holinski-Feder, Elke; Neeve, Vivienne C M; Pyle, Angela; Griffin, Helen; Ashok, Deephthi; Foley, Charlotte; Hudson, Gavin; Rautenstrauss, Bernd; Nürnberg, Gudrun; Nürnberg, Peter; Kortler, Jörg; Neitzel, Birgit; Bässmann, Ingelore; Rahman, Thahira; Keavney, Bernard; Loughlin, John; Hambleton, Sophie; Schoser, Benedikt; Lochmüller, Hanns; Santibanez-Koref, Mauro; Chinnery, Patrick F
Movement disorders : official journal of the Movement Disorder Society. 2012;27(6):789-93.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- PMID: 22508347
- UKPMCID: 22508347
- DOI: 10.1002/mds.24980
Abstract
BACKGROUND: Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes. METHODS: We performed homozygosity mapping and whole-exome sequencing in 2 brothers with brain iron accumulation from a consanguineous family. RESULTS: We identified a homozygous missense mutation in both brothers in the very recently identified chromosome 19 open-reading frame 12 gene. The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity. Additional features were optic atrophy, peripheral neuropathy, and learning difficulties. A raised serum creatine kinase indicated neuromuscular involvement, and compensatory mitochondrial proliferation implicated mitochondrial dysfunction as a pathological mechanism. CONCLUSIONS: Further studies are needed to explore the function of the chromosome 19 open-reading frame 12 gene, and extended genetic analysis on larger patient cohorts will provide more information about the presentation and frequency of this disease.
Bibliographic metadata
- Horvath, Rita
- Holinski-Feder, Elke
- Neeve, Vivienne C M
- Pyle, Angela
- Griffin, Helen
- Ashok, Deephthi
- Foley, Charlotte
- Hudson, Gavin
- Rautenstrauss, Bernd
- Nürnberg, Gudrun
- Nürnberg, Peter
- Kortler, Jörg
- Neitzel, Birgit
- Bässmann, Ingelore
- Rahman, Thahira
- Keavney, Bernard
- Loughlin, John
- Hambleton, Sophie
- Schoser, Benedikt
- Lochmüller, Hanns
- Santibanez-Koref, Mauro
- Chinnery, Patrick F