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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 1 (SANTAVUORI-HALTIA-DISEASE)
CLN1 CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET
256730
OMIM = Online Medalian Inheritance of Men
228329
1p34.2
  • gene therapy
  • no specific treatment
rare
autosomal recessive
- classic infantile-onset
- late Infantile- and juvenile-onset
- adult-onset
symptoms
ataxia
behavior, hyperactive, restless
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
chorea or athetosis
contractures, joints
dementia
depression
developmental regression
dysarthria
dystonia
early death
epilepsy
hypertonia, spasticity
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly (<2 SD for age)
motor retardation
myoclonus
onset, adolescent
onset, adulthood
onset, childhood
onset, infancy
onset, variable age
optic atrophy
psychomotor retardation
psychosis
pyramidal signs
retinal or macular degeneration
retinopathy
seizures
speech difficulties
tremor or twitching
laboratory finding
skin biopsy, abnormal
Lymphocytes, vacuoles blood
conjunctival biopsy, abnormal abnormal
MRI, brain, abnormalities -
CT, brain, abnormalities -
EEG abnormalities -
VEP (visual evoked potentials), abnormal -
Palmitoyl-protein thioesterase-1 decreased activityleucocytes
Literature
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