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Pantothenate kinase-associated neurodegeneration
Other Resources UpToDate PubMed

Pantothenate kinase-associated neurodegeneration

Contributors: Jennifer Vermilion MD, Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed


Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, particularly in the basal ganglia. It is caused by PANK2 mutations on chromosome 20.

In classic PKAN, symptoms typically begin in early childhood with limb dystonia, spasticity, clumsiness, and frequent falls. Most children lose independent ambulation by 10 years of age. There is a stepwise decline with progression to death by early adulthood. Signs and symptoms include progressive dystonia, chorea, rigidity, postural instability, tremor, dysarthria, dysphagia, pigmentary retinal degeneration, dementia, and behavior changes.

Atypical PKAN tends to have a later age of onset with psychiatric disturbances or speech changes and a slower disease progression. Abnormal movements are a common feature, most often dystonia.


G23.0 – Hallervorden-Spatz disease

2992000 – Pigmentary pallidal degeneration

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Leigh disease – On T2-weighted MRI sequence, you may see symmetric hyperintensities in the basal ganglia but without the surrounding hypointensities from iron accumulation.
  • Infantile neuroaxonal dystrophy – Cerebellar atrophy is common.
  • Early-onset Parkinson disease
  • Wilson disease
  • Juvenile-onset Huntington disease
  • Rapid-onset dystonia Parkinsonism
  • GM1 gangliosidosis
  • Batten disease
  • Neuroacanthocytosis
Brain MRI with iron-sensitive sequences (such as T2) helps to differentiate PKAN from the above differential diagnoses. Genetic testing for mutations in the PANK2 gene is confirmatory.

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Last Reviewed:08/19/2018
Last Updated:01/20/2022
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Pantothenate kinase-associated neurodegeneration
A medical illustration showing key findings of Pantothenate kinase-associated neurodegeneration (Classic) : Dysarthria, Dystonia, Night blindness, Rigidity, Chorea, Cognitive decline
Copyright © 2024 VisualDx®. All rights reserved.