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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CLN2 JANSKY-BIELSCHOWSKY DISEASE
204500
OMIM = Online Medalian Inheritance of Men
228349
11p15.4
rare
autosomal recessive
mutation in the TPP1 gene
symptoms
abnormal movement
ataxia
blindness, visual loss, visual impairment
cerebral atrophy
developmental regression
dystonia
epilepsy
myoclonus
onset, infancy
optic atrophy
retinal or macular degeneration
retinopathy
seizures
speech development, delayed, abnormal
laboratory finding
SEP (sensory evoked potentials), abnormal - ---
VEP (visual evoked potentials), abnormal - ---
EEG abnormalities - ---
Literature
Pereira BD,et al.X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.Arch Endocrinol Metab592181-1852015
Ismail HM,Rincon MX-linked adrenal hypoplasia congenita: a case report and ethical dilemmaEndocr Pract207e126-e1292014
Ogaki K,et al.Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.Neuropathology36164-762016
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
Rodriguez Estevez A,et al.Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.J Pediatr Endocrinol Metab2891129-11372015