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Hallervorden-Spatz disease; pantothenate kinase associated neurodegeneration (PKAN); neurodegeneration with brain iron accumulation type 1 (NBIA1); pigmentary pallidal degeneration
Epidemiology:
1) often presents in infancy
2) 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:
1) autosomal recessive disorder
2) 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
Interactions
disease interactions
Related
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
General
basal ganglia disease
neurodegeneration with brain iron accumulation
synucleinopathy (includes alpha-synucleinopathy)
Database Correlations
OMIM correlations
MORBIDMAP 606157
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: 11062131
- Neurodegeneration with Brain Iron Accumulation Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page