adult-onset basal ganglia disease
MeSH: C548080ORPHA: 157846
Overview
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with adult-onset basal ganglia disease, sourced from HPO and Orphanet clinical annotations.
DystoniaAbnormal basal ganglia morphologyDecreased circulating ferritin concentrationIron accumulation in brainCognitive impairmentHypomimic faceEmotional labilityDysarthriaGait disturbanceDysphoniaDysphagiaBradykinesiaChoreaOrofacial dyskinesiaAbnormal caudate nucleus morphologyEye of the tiger anomaly of globus pallidusInvoluntary movementsFocal dystoniaIron accumulation in substantia nigraT2 hypointense thalamusAbnormal thalamic MRI signal intensityLeg dystoniaAbnormal putamen morphologyAbnormal dentate nucleus morphologyBlepharospasmParkinsonismBrisk reflexesWeak voiceLoss of voiceCaudate atrophyWriter's crampLower limb hyperreflexiaUpper limb hyperreflexiaImpaired smooth pursuitPalatal tremorArm dystoniaPsychosisFrontal lobe dementiaResting tremorIncreased CSF protein concentrationBabinski signSubcortical dementiaUpgaze palsy
Classification & Codes
MeSH Code
C548080Orphanet Code
ORPHA:157846adult-onset basal ganglia disease
| MeSH | C548080 |
| Orphanet | ORPHA:157846 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO