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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 10
CLN10 CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT
610127
OMIM = Online Medalian Inheritance of Men
228337
11p15.5
rare
autosomal recessive
symptoms
abnormal movement
apnea
ataxia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental regression
epilepsy
hypertonia, spasticity
low set ears
mental retardation
microcephaly (<2 SD for age)
muscular rigidity
myoclonus
onset, variable age
optic atrophy
respiratory insufficiency
retinitis pigmentosa
retinopathy
seizures
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities - ---
EEG abnormalities - ---
VEP (visual evoked potentials), abnormal - ---
Electron microscopy - abnormaltissues
Literature
Finsterer J,Stoellberger CUnclassified cardiomyopathies in neuromuscular disordersWien Med Wochenschr16321505-5132013
Fidzianska A,et al.Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 geneNeuropediatrics445276-2802013
Rothaug M,et al.LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease.Acta Neuropathol Commun3062015
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
Holzinger D,et al.Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.J Allergy Clin Immunol13651337-13452015