Synonysms:
Pantathenate kinase associated neurodegeneration PKAN a.k.a. Pantathenate kinase PANK deficiency a.k.a. Pantathenate kinase PANK deficiency a.k.a. Neurodegeneration with brain iron accumulation type 1 NBIA1, formerly Hallervorden-Spatz disease, rare:
Diagnosis:
Genetics:
- Sporadic or autosomal recessive
- PANK2 gene Chr. 20p13. Protein= pantothenate kinase (involved in coenzyme A biosythesis, panthothenate= vitamin B5)
Clinical features:
- Childhood onset usually but may present in adulthood
- Ridigity, difficulty walking, dysarthria, dementia,
- Psychiatic symptoms: depression, behavioural problems
Findings on investigations:
MRI:
- T2: external globus pallidus bilateral hyperintensities with surrounding hypointensity a.k.a. “eye of the tiger sign”
- Generalised atrophy
- Other tests:
- Blood smear: increased acanthocytes
Pathology:
Gross: discolouration of the medial globus pallidus & substantia nigra. Atrophy of cerebral cortex, brain stem & cerebellum
Microscopically: axonal spheroids, neuronal loss & astrocytosis in the medial globus pallidus & substatia nigra. Spheroids also occur in the cerebral cortex, thalamus, subthalamus, striatum, brainstem & spinal cord,
Iron deposition in spheroids, neurons, microglia & vessels.
Immunohistochemistry: spheroids are positive for ferritin, ubiquitin, amyloid precursor protein, neurofilament and alpha synuclein.