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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 4B
CLN4B KUFS DISEASE, AUTOSOMAL DOMINANT
162350
OMIM = Online Medalian Inheritance of Men
228343
20q13.33
rare
autosomal dominant
mutation in the DNAJC5 gene
symptoms
abnormal movement
ataxia
behavior, abnormal or bizarre, confusion
cerebellar atrophy or hypoplasia
cerebral atrophy
dementia
depression
extrapyramidal signs
hypertonia, spasticity
myoclonus
onset, adulthood
Parkinsonism
seizures
speech development, delayed, abnormal
laboratory finding
Electron microscopy - abnormaltissues
EEG abnormalities - ---
Literature
Tylki-Szymanska A,et al.Aminoacylase 1 deficiency associated with autistic behaviorJ Inherit Metab Dis Suppl 300S3211-S3212010
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