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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 8 CLN8
CLN8
600143
OMIM = Online Medalian Inheritance of Men
228354
8p23.3
rare
autosomal recessive
mutation in the CLN8 gene
symptoms
abnormal movement
ataxia
behavior, abnormal or bizarre, confusion
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental regression
dystonia
epilepsy
hypertonia, spasticity
myoclonus
onset, childhood
optic atrophy
retinal atrophy
retinopathy
seizures
speech development, delayed, abnormal
laboratory finding
Electron microscopy - abnormaltissues
EEG abnormalities - ---
VEP (visual evoked potentials), abnormal - ---
MRI, brain, abnormalities - ---
Literature
Sin YYet al.Arginase-1 deficiencyJ Mol Med (Berl)93121287-12962015
Schlune A,et al.Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.Amino Acids4791751-17622015
Blau Net al.Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopySPS000
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