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All patients with classic Hallervorden-Spatz syndrome and one third of those with atypical disease had PANK2 mutations. Whereas almost all mutations in patients with atypical disease led to amino acid changes, those in patients with classic disease more often resulted in predicted protein truncation. Patients with atypical disease who had PANK2 mutations were more likely to have prominent speech-related and psychiatric symptoms than patients with classic disease or mutation-negative patien ts with atypical disease. In all patients with pantothenate kinase-associated neurodegeneration, whether classic or atypical, T2-weighted magnetic resonance imaging (MRI) of the brain showed a specific pattern of hyperintensity within the hypointense med ial globus pallidus. This pattern was not seen in any patients without mutations. PANK2 mutations are associated with all cases of classic Hallervorden-Spatz syndrome and one third of cases of atypical disease. A specific MRI pattern distinguishes pati ents with PANK2 mutations. Predicted levels of pantothenate kinase 2 protein correlate with the severity of disease. |
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chromosomal abnormality
chromosome 20
degenerative diseases of CNS
dysarthria
dystonia
enzyme,defect
gait disorder
gene
gene mutation
genetic neurologic disorders
globus pallidus,lesion of
globus pallidus,lesion of,bilateral
Hallervorden Spatz disease
Hallervorden Spatz disease,late onset
intellectual deficit
iron,brain
movement disorder
movement disorder,extrapyramidal
MRI
MRI,abnormal
MRI,eye of tiger sign
MRI,paramagnetic effect
neurologic signs
palilalia
PANK2 mutation
Parkinsonism syndrome
pigmentary retinopathy
postural abnormality
psychiatric disorder
psychiatric problems in neurologic disorders
retinopathy
review article
rigidity
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