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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CLN5 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED
256731
OMIM = Online Medalian Inheritance of Men
228360
13q22.3
rare
autosomal recessive
mutation in the CLN5 gene
symptoms
abnormal movement
ataxia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental regression
dysarthria
epilepsy
macular dystrophy
mental retardation
myoclonus
nystagmus
onset, adolescent
onset, childhood
optic atrophy
retinal atrophy
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities - ---
VEP (visual evoked potentials), abnormal - ---
SEP (sensory evoked potentials), abnormal - ---
MRI, brain, abnormalities - ---
Electron microscopy - abnormaltissues
Literature
Sommer A,et al.The molecular basis of aminoacylase 1 deficiency.Biochim Biophys Acta18126685-6902011
Villegas-Ruiz V,et al.Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.Clin Biochem48181273-12762015
Ferri L,et al.Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Clin Genet864367-3722014
Engelke UF,et al.NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolismNMR Biomed212138-1472008