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Pantothenate kinase-associated neurodegeneration
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Pantothenate kinase-associated neurodegeneration

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Contributors: Jennifer Vermilion MD, Jamie Adams MD, Richard L. Barbano MD, PhD
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Synopsis

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.

For more information, see OMIM.

Codes

ICD10CM:
G23.0 – Hallervorden-Spatz disease

SNOMEDCT:
2992000 – Pigmentary pallidal degeneration

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

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.

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 08/20/2018
Last Updated: 08/20/2018
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Pantothenate kinase-associated neurodegeneration
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Pantothenate kinase-associated neurodegeneration (Classic) : Dysarthria, Dystonia, Night blindness, Rigidity, Chorea, Cognitive decline
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