Neurodegeneration with brain iron accumulation

What it is

A group of rare neurometabolic disease characterized by progressive extrapyramidal dysfunction (including generalized or oromandibular dystonia, dysarthria, Parkinsonism, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. It encompasses several disorders that can be distinguised by MRI and patients may present with variable clinical features including neuropathy, spastic paraplegia, encephalopathy, autism, dementia, diabetus mellitus, retinitis pigmentosa, optic atrophy, hypogonadism, alopecia and deafness. The age at onset and rate of progression are variable among individuals.

Key facts

Prevalence

1-9 / 1 000 000 (Europe)

Age of onset

Adolescent, Adult, Childhood, Infancy

Inheritance

Autosomal dominant, Autosomal recessive, X-linked dominant

Classified as

Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

Orphanet records these genes on 9 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references