Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden–Spatz syndrome), is a disorder characterized by iron accumulation in the brain. The estimated incidence is about 1–3 per million. The cause is a mutation in the  PANK2 gene. In fact, PKAN is one of the most common disorders with iron accumulation in the brain (NBIA) causing deterioration of normal neurological development. In PKAN normal movement, balance, speech, vision, cognition, and behaviour are progressively affected. As a result, most children lose the ability to move independently by age 10 years, in 'classic' PKAN.  Visual impairment is common in PKAN. This feature may follow earlier signs of the neurological disease in most individuals with PKAN.

Last modified
7 May 2020
Abbreviation
PKAN
OMIM

# 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

ORPHA

ORPHA:157850

General Medical Guideline
Progressive dystonia and atypical retinitis pigmentosa are main characteristics of classical PKAN. Therapy is symptomatic.
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