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Start free with EleplanCOASY protein-associated neurodegeneration
ORPHA:397725Disease
Also called CoPAN · NBIA6 · Neurodegeneration with brain iron accumulation due to COASY mutation
What it is
COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
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.
Signs and symptoms
Very common80–99%
13- Abnormal caudate nucleus morphology
- Abnormal corpus striatum morphology
- Abnormal globus pallidus morphology
- Abnormality of thalamus morphology
- Cognitive impairment
- Compulsive behaviors
- Dysarthria
- Eye of the tiger anomaly of globus pallidus
- Gait disturbance
- Oromandibular dystonia
- Parkinsonism
- Peripheral axonal neuropathy
- Spastic paraparesis
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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