MovDisordV3, Main, Exploration, bibRecord, 001136

Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

Identifieur interne : 001136 ( Main/Exploration ); précédent : 001135; suivant : 001137

Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

Auteurs : Maria Stamelou [Royaume-Uni] ; Karin Tuschl [Royaume-Uni] ; W. K. Chong [Royaume-Uni] ; Andrew K. Burroughs [Royaume-Uni] ; Philippa B. Mills [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Peter T. Clayton [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0369643

Descripteurs français

Pascal (Inist)
- Dystonie, Cirrhose, Polyglobulie, Pathologie du système nerveux, Encéphale, Manganèse, Mutation.
Wicri :
- topic : Manganèse.

English descriptors

KwdEn :
- Brain (metabolism), Cation Transport Proteins (genetics), Chelating Agents (therapeutic use), Cirrhosis, Dystonia, Dystonia (drug therapy), Dystonia (genetics), Dystonia (pathology), Encephalon, Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Manganese, Manganese (metabolism), Mutation, Mutation (genetics), Nervous system diseases, Pentetic Acid (therapeutic use), Polycythemia, Young Adult.
MESH :
- chemical , genetics : Cation Transport Proteins.
- drug therapy : Dystonia.
- genetics : Dystonia, Mutation.
- metabolism : Brain, Manganese.
- pathology : Dystonia.
- chemical , therapeutic use : Chelating Agents, Pentetic Acid.
- Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Young Adult.

Abstract

Background: The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. Methods: We present 10-year longitudinal clinical features, MRI data, and treatment response to chelation therapy of the originally described patient with a proven homozygous mutation in SLC30A10. Results: The patient presented with early-onset generalized dystonia and mild hyperbilirubinemia accompanied by elevated whole-blood manganese levels. T1-sequences in MRI showed hyperintensities in the basal ganglia and cerebellum, characteristic of manganese deposition. Treatment with intravenous disodium calcium edetate led to clinical improvement and reduction of hyperintensities in brain imaging. Conclusions: We wish to highlight this rare disorder, which, together with Wilson's disease, is the only potentially treatable inherited metal storage disorder to date, that otherwise can be fatal as a result of complications of cirrhosis.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664426

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">Background: The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. Methods: We present 10-year longitudinal clinical features, MRI data, and treatment response to chelation therapy of the originally described patient with a proven homozygous mutation in SLC30A10. Results: The patient presented with early-onset generalized dystonia and mild hyperbilirubinemia accompanied by elevated whole-blood manganese levels. T1-sequences in MRI showed hyperintensities in the basal ganglia and cerebellum, characteristic of manganese deposition. Treatment with intravenous disodium calcium edetate led to clinical improvement and reduction of hyperintensities in brain imaging. Conclusions: We wish to highlight this rare disorder, which, together with Wilson's disease, is the only potentially treatable inherited metal storage disorder to date, that otherwise can be fatal as a result of complications of cirrhosis.</div>
</front>
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Movement Disorders (revue)

Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.