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Neuroaxonal Dystrophies
Neurodegeneration with Brain Iron Accumulation Type 1 (NBIA 1)
Definition
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Progressive neurodegenerative disease characterized clinically by extrapyramidal symptoms with dementia and by the presence of iron accumulation and axonal spheroids within the globus pallidus and substantia nigra histologically
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Previously called: Hallervorden–Spatz disease
Clinical Features
Epidemiology
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Rare, sporadic or autosomal recessive inherited disease
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Usually affects adolescents, age range: 7 to 15 years old; infant and adult presentations reported
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Incidence and prevalence unknown; 100 reported cases in literature
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No gender or ethnic predominance
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Autosomal recessive inheritance associated with mutation in the pantothenate kinase ( PANK2 ) gene on chromosome 20; possible mechanism is pantothenate kinase deficiency, which results in accumulation of cysteine/cysteine compounds in the basal ganglia leading to free radical generation and cell death
Presentation
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Progressive extrapyramidal dysfunction (rigidity, bradykinesia, dystonia, tremor, chorea), dysarthria, gait abnormalities, dysphagia, and dementia
Prognosis and Treatment
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Progressive disease leading to death within 10 to 12 years from disease onset
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Dopaminergic agents may improve extrapyramidal symptoms
Imaging Characteristics
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MRI:
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Cerebral, cerebellar, and brain stem atrophy; enlarged ventricles
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“Eye of the tiger” sign: symmetrical, bilateral, hypointensity (T2-weighted images) of the anterior medial globus pallidus (decreased signal from iron deposition)
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