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CEROID LIPOFUSCINOSIS, NEURONAL, 12

CEROID LIPOFUSCINOSIS, NEURONAL, 12
CLN12; KUFOR-RAKEB SYNDROME
606693
OMIM = Online Mendelian Inheritance of Men
314632
Cation-transporting ATPase 13A2
1p36.13
E75.4
rare
autosomal recessive
mutation in the ATP13A2 gene
Laboratory findings
Symptoms    abnormal movement
    anosmia
    ataxia
    behavior, aggressive
    cognitive impairment
    dementia
    dysarthria
    dystonia
    Electron microscopy [-]
    extrapyramidal signs
    gait disturbance
    hyperreflexia
    hypokinesia
    myoclonus
    onset, adolescent
    Parkinsonism
    psychosis
    pyramidal signs
    spastic diplegia/quadriplegia/tetraplegia
    torticollis
    tremor or twitching