منابع مشابه
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain...
متن کاملFrattini supplements and Frat- series
In this study, Frattini supplement subgroup and Frattini supplemented group are defined by Frattini subgroup. By these definitions, it's shown that finite abelian groups are Frattini supplemented and every conjugate of a Frattini supplement of a subgroup is also a Frattini supplement. A group action of a group is defined over the set of Frattini supplements of a normal subgro...
متن کاملDystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder
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...
متن کاملDystonia.
Therapy for most people with dystonia is symptomatic, directed at lessening the intensity of the dystonic contractions. For a small minority of patients (eg, those with dopa-responsive dystonia, Wilson's disease, or psychogenic dystonia), specific therapy directed at one of the many causes of dystonia is available. Before initiating treatment, clinicians need to decide if a patient has a form o...
متن کاملDystonia.
INTRODUCTION Dystonia is usually a lifelong condition with persistent pain and disability. Focal dystonia affects a single part of the body; generalised dystonia can affect most or all of the body. It is more common in women, and some types of dystonia are more common in people of Ashkenazi descent. METHODS AND OUTCOMES We conducted a systematic review and aimed to answer the following clinic...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1995
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-9-1-6