Movement disorders : official journal of the Movement Disorder Society · 2012
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.
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.