Visit Metagene.de!
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
mutation in the cathepsin D gene
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