Hallervorden-Spatz disease; pantothenate kinase associated neurodegeneration (PKAN); neurodegeneration with brain iron accumulation type 1 (NBIA1); pigmentary pallidal degeneration
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Epidemiology
- often presents in infancy
- onset can occur as adult
Pathology
- iron deposition & axonal spheroids seen in globus pallidus, substantia nigra & medulla
- Lewy body (LB)-like intraneuronal inclusions
- glial inclusions
- neurofibrillary tangles
- SNCA is found in LB-like inclusions, glial inclusions & spheroids
- SNCB & SNCG are found in axonal spheroids, but not in inclusions
Genetics
- autosomal recessive disorder
- associated with mutations in pantothenate kinase 2 gene
Clinical manifestations
- delayed motor & language development
- deterioration of gait & hand skills ~3 - 6 yrs
- dysarthria
- aphasia
- spasticity
- bilateral retinopathy
- optic atrophy
- seizures
- acanthocytosis
Management
- prognosis: death usually occurs ~ 10 yrs after onset
More general terms
- synucleinopathy (includes alpha-synucleinopathy)
- basal ganglia disease
- neurodegeneration with brain iron accumulation
Additional terms
- alpha-synuclein; non-A beta component of AD amyloid; non-A4 component of amyloid; NACP (SNCA, NACP, PARK1)
- neurodegeneration with brain iron accumulation 2A; infantile neuroaxonal dystrophy; Seitelberger disease
- pantothenate kinase
References
- ↑ OMIM #234200
- ↑ Giasson BI et al Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. Science 290:985-9, 2000 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11062131
- ↑ Neurodegeneration with Brain Iron Accumulation Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page
Patient information
Hallervorden-Spatz disease patient information