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NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 (PKAN)

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 (PKAN)
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN
234600
OMIM = Online Mendelian Inheritance of Men
157850
Pantothenate kinase 2, mitochondrial
2.7.1.33
20p13
G23.0
rare
autosomal recessive
mutation in the pantothenate kinase-2 gene
- classic PKAN (early childhood onset)
- atypical PKAN (later onset)
Laboratory findings    Iron inc (urine)
Symptoms    ataxia
    behavior, hyperactive, restless
    dementia
    depression
    developmental delay
    dysarthria
    dysphagia
    dystonia
    extrapyramidal signs
    feeding difficulties, poor feeding
    gait disturbance
    hyperreflexia
    intellectual disability/intellectual developmental disorder
    MRI, brain, abnormalities [-]
    onset, adolescent
    onset, childhood
    optic atrophy
    Parkinsonism
    pigmentation, skin and sclera
    retinal or macular degeneration
    retinitis pigmentosa
    retinopathy
    speech development, delayed, abnormal
    tremor or twitching