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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 12
CLN12 KUFOR-RAKEB SYNDROME
606693
OMIM = Online Medalian Inheritance of Men
314632
1p36.13
rare
autosomal recessive
symptoms
abnormal movement
anosmia
ataxia
behavior. aggressive
dementia
dysarthria
dystonia
extrapyramidal signs
gait disturbance
hyperreflexia
hypokinesia
myoclonus
onset, adolescent
Parkinsonism
psychosis
pyramidal signs
spastic diplegia/quadriplegia
torticollis
tremor or twitching
laboratory finding
Electron microscopy - abnormaltissues
Literature
Sommer A,et al.The molecular basis of aminoacylase 1 deficiency.Biochim Biophys Acta18126685-6902011
Ferri L,et al.Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Clin Genet864367-3722014
Nagamani SCS,Erez A, Lee BArgininosuccinate lyase deficiencyGenet Med145501-5072012