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GTR Home > Conditions/Phenotypes > Neurodegeneration with brain iron accumulation 4

Neurodegeneration with brain iron accumulation 4

Synonyms
MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION; Mitochondrial Membrane Protein Associated Neurodegeneration
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Allison Gregory
Thomas Klopstock
Tomasz Kmiec
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Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MPAN, NBIA3, NBIA4, SPG43, C19orf12
    Summary: chromosome 19 open reading frame 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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