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Neuroferritinopathy

Index Neuroferritinopathy

Neuroferritinopathy or adult-onset basal ganglia disease is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal ganglia, cerebellum, and motor cortex of the human brain. [1]

52 relations: Allele, Alzheimer's disease, Apoptosis, Autosome, Basal ganglia, Biopsy, Blood–brain barrier, Botulinum toxin, Carboxylic acid, Cavitation, Cerebellum, Cerebral atrophy, Chorea, Clonazepam, Coenzyme Q10, Cytochrome c oxidase, Deferiprone, Diazepam, Dimethylethanolamine, Dominance (genetics), Dystonia, Exon, Extrapyramidal symptoms, Fenton's reagent, Ferritin, Ferritin light chain, Founder effect, Frameshift mutation, FTH1, Iron, L-DOPA, Magnetic resonance imaging, Motor cortex, Movement disorders, Neurodegeneration, Neuroglia, Neuron, Nucleotide, Orphenadrine, Pantothenate kinase-associated neurodegeneration, Parkinson's disease, Parkinsonism, Purkinje cell, Putamen, Radical (chemistry), Radical surgery, Serum (blood), Spasticity, Striatum, Sulpiride, ..., Tetrabenazine, Trihexyphenidyl. Expand index (2 more) »

Allele

An allele is a variant form of a given gene.

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Alzheimer's disease

Alzheimer's disease (AD), also referred to simply as Alzheimer's, is a chronic neurodegenerative disease that usually starts slowly and worsens over time.

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Apoptosis

Apoptosis (from Ancient Greek ἀπόπτωσις "falling off") is a process of programmed cell death that occurs in multicellular organisms.

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Autosome

An autosome is a chromosome that is not an allosome (a sex chromosome).

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Basal ganglia

The basal ganglia (or basal nuclei) is a group of subcortical nuclei, of varied origin, in the brains of vertebrates including humans, which are situated at the base of the forebrain.

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Biopsy

A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist involving extraction of sample cells or tissues for examination to determine the presence or extent of a disease.

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Blood–brain barrier

The blood–brain barrier (BBB) is a highly selective semipermeable membrane barrier that separates the circulating blood from the brain and extracellular fluid in the central nervous system (CNS).

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Botulinum toxin

Botulinum toxin (BTX) or Botox is a neurotoxic protein produced by the bacterium Clostridium botulinum and related species.

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Carboxylic acid

A carboxylic acid is an organic compound that contains a carboxyl group (C(.

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Cavitation

Cavitation is the formation of vapour cavities in a liquid, small liquid-free zones ("bubbles" or "voids"), that are the consequence of forces acting upon the liquid.

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Cerebellum

The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates.

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Cerebral atrophy

Cerebral atrophy is a common feature of many of the diseases that affect the brain.

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Chorea

Chorea (or choreia, occasionally) is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias.

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Clonazepam

Clonazepam, sold under the brand name Klonopin among others, is a medication used to prevent and treat seizures, panic disorder, and for the movement disorder known as akathisia.

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Coenzyme Q10

Coenzyme Q10, also known as ubiquinone, ubidecarenone, coenzyme Q, and abbreviated at times to CoQ10, CoQ, or Q10 is a coenzyme that is ubiquitous in animals and most bacteria (hence the name ubiquinone).

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Cytochrome c oxidase

The enzyme cytochrome c oxidase or Complex IV, is a large transmembrane protein complex found in bacteria, archaea, and in eukaryotes in their mitochondria.

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Deferiprone

Deferiprone (tradenames include Ferriprox) is a drug that chelates iron and is used to treat iron overload in thalassaemia major.

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Diazepam

Diazepam, first marketed as Valium, is a medicine of the benzodiazepine family that typically produces a calming effect.

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Dimethylethanolamine

Dimethylaminoethanol and dimethylethanolamine (DMAE and DMEA respectively), with deanol, are common names for 2-(dimethylamino)ethanol.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Dystonia

Dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle contractions result in twisting and repetitive movements or abnormal fixed postures.

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Exon

An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.

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Extrapyramidal symptoms

Extrapyramidal symptoms (EPS), also known as extrapyramidal side effects (EPSE), are drug-induced movement disorders that include acute and tardive symptoms.

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Fenton's reagent

Fenton's reagent is a solution of hydrogen peroxide with ferrous iron as a catalyst that is used to oxidize contaminants or waste waters.

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Ferritin

Ferritin is a universal intracellular protein that stores iron and releases it in a controlled fashion.

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Ferritin light chain

Ferritin light chain is a protein that in humans is encoded by the FTL gene.

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Founder effect

In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population.

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Frameshift mutation

A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three.

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FTH1

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene.

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Iron

Iron is a chemical element with symbol Fe (from ferrum) and atomic number 26.

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L-DOPA

L-DOPA, also known as levodopa or L-3,4-dihydroxyphenylalanine is an amino acid that is made and used as part of the normal biology of humans, as well as some animals and plants.

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Magnetic resonance imaging

Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body in both health and disease.

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Motor cortex

The motor cortex is the region of the cerebral cortex involved in the planning, control, and execution of voluntary movements.

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Movement disorders

Movement disorders are clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements, unrelated to weakness or spasticity.

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Neurodegeneration

Neurodegeneration is the progressive loss of structure or function of neurons, including death of neurons.

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Neuroglia

Neuroglia, also called glial cells or simply glia, are non-neuronal cells in the central nervous system (brain and spinal cord) and the peripheral nervous system.

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Neuron

A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.

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Nucleotide

Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.

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Orphenadrine

Orphenadrine (sold under many brand names worldwide Page accessed Feb 5, 2016) is an anticholinergic drug of the ethanolamine antihistamine class; it is closely related to diphenhydramine.

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Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1), also called Hallervorden–Spatz syndrome, is a degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death.

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Parkinson's disease

Parkinson's disease (PD) is a long-term degenerative disorder of the central nervous system that mainly affects the motor system.

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Parkinsonism

Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia, rigidity, and postural instability.

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Purkinje cell

Purkinje cells, or Purkinje neurons, are a class of GABAergic neurons located in the cerebellum.

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Putamen

The putamen is a round structure located at the base of the forebrain (telencephalon).

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Radical (chemistry)

In chemistry, a radical (more precisely, a free radical) is an atom, molecule, or ion that has an unpaired valence electron.

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Radical surgery

Radical surgery, also called radical dissection, refers to the removal of blood supply, lymph nodes and sometimes adjacent structures of a diseased organ or tumor during surgery.

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Serum (blood)

In blood, the serum is the component that is neither a blood cell (serum does not contain white or red blood cells) nor a clotting factor; it is the blood plasma not including the fibrinogens.

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Spasticity

Spasticity is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia.

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Striatum

The striatum, or corpus striatum (also called the neostriatum and the striate nucleus) is a nucleus (a cluster of neurons) in the subcortical basal ganglia of the forebrain.

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Sulpiride

Sulpiride, sold under the brand name Dogmatil among others, is an atypical antipsychotic (although some texts have referred to it as a typical antipsychotic) medication of the benzamide class which is used mainly in the treatment of psychosis associated with schizophrenia and major depressive disorder, and sometimes used in low dosage to treat anxiety and mild depression.

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Tetrabenazine

Tetrabenazine is a drug for the symptomatic treatment of hyperkinetic movement disorders.

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Trihexyphenidyl

Trihexyphenidyl (Artane, Apo-Trihex, Parkin, Pacitane), also known as benzhexol, Artane, and trihex, is an antiparkinsonian agent of the antimuscarinic class.

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Adult-onset basal ganglia disease.

References

[1] https://en.wikipedia.org/wiki/Neuroferritinopathy

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