Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare autosomal recessive lysosomal storage disease.
This neurodegenerative disorder usually presents between ages 2 and 4 years with ...
Due to the lack of disease awareness and the presence of nonspecific initial symptoms, a delay of 2 to 3 years in diagnosis is common.
In 82% of cases, there is a ≥1 year delay in referral to...
The mainstay of treatment of CLN2 disease is symptom control and quality of life improvement.
Seizures
Family and caregivers at home and school should have an emergency seizu...
CLN2 patients need lifelong ...
BioMarin Pharmaceutical. BRINEURA (cerliponase alfa) injection, for intraventricular use. http://www.accessdata.fda.gov/drugsatfda_docs/label/2017/761052lbl.pdf. Accessed December 1...
42012007 Neuronal ceroid lipofuscinosis
14637005 Late-infantile neuronal ceroid lipofuscinosis
58258004 Infantile neuro...
CLN2 is an autosomal recessive disease that usually presents between ages 2 and 4 years.
This disorder is due to the lysosomal deficiency of TPP1.
Symptoms are usually seizures, developm...
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