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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 4A
CLN4A KUFS DISEASE
204300
OMIM = Online Medalian Inheritance of Men
228340
15q23
rare
autosomal recessive
mutation in the CLN6 gene
symptoms
abnormal movement
ataxia
behavior, abnormal or bizarre, confusion
cerebral atrophy
dementia
depression
epilepsy
extrapyramidal signs
myoclonus
onset, adulthood
seizures
laboratory finding
MRI, brain, abnormalities - ---
Electron microscopy - abnormaltissues
Literature
Tylki-Szymanska A,et al.Aminoacylase 1 deficiency associated with autistic behaviorJ Inherit Metab Dis Suppl 3333S3211-S2142010
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