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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CLN6 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT, INCLUDED
601780
OMIM = Online Medalian Inheritance of Men
228363
15q23
rare
autosomal recessive
mutation in the CLN6 gene
symptoms
abnormal movement
ataxia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental regression
dystonia
epilepsy
myoclonus
neurological deterioration
onset, childhood
optic atrophy
retinal or macular degeneration
retinopathy
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities - ---
SEP (sensory evoked potentials), abnormal - ---
VEP (visual evoked potentials), abnormal - ---
Electron microscopy - abnormaltissues
Literature
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