Lipofuscinosis-6###PYCR2###Hypomyelinating Leukodystrophy, 10
The company said that RGX-181 is a one-time treatment candidate for late-infantile neuronal ceroid
lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene.
The panel was prepared using a NimbleGen SeqCap EZ Choice kit (Roche, Basel, Switzerland), which included 927 disease-causative genes of the neurogenetic disease, containing progressive myoclonic epilepsy, hereditary ataxia, mitochondrial diseases, neuronal ceroid
lipofuscinosis and other neurogenetic diseases.
Infantile neuronal ceroid
lipofuscinosis (INCL) is a severe lysosomal disease caused by mutations in the CLN1 gene, which encodes the soluble lysosomal enzyme Palmitoyl- Protein-Thioesterase-1 (PPT1) and result in osmiophilic granules accumulating in lysosomes and leading to neuroinflammation, neurodegeneration and death.
Interestingly, there was one patient who was diagnosed with neuronal ceroid
lipofuscinosis (NCL), which is generally refractory to other AEDs; this patient showed significant improvement in seizure frequency as described below.
Periodic acid-Schiff (PAS) stain with diastase pretreatment drew attention to the ceroid
pigment-laden Kupffer cells indicative of the significant hepatocyte death that must have preceded this biopsy (Figure 2(c)).
Batten disease is commonly used to make reference to all forms of Neuronal Ceroid
Originally described by Hermansky and Pudlak in 1959, (77) Hermansky-Pudlak Syndrome (HPS) is caused by a related group of autosomal recessive disorders that are characterized by the triad of oculocutaneous albinism, bleeding diathesis due to a platelet storage pool deficiency, and lysosomal accumulation of ceroid
Brineura is the first FDA-approved treatment to slow loss of walking ability in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid
lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.
TPP1 deficiency results in classic late infantile (type 2) neuronal ceroid
lipofuscinosis (LINCL, also called Jansky-Bielschowsky disease) (9).
Serum antibodies to oxidized, low-density lipoprotein and ceroid
in chronic periaortitis.
Kwon, "Classification and natural history of the neuronal ceroid
lipofuscinoses," Journal of Child Neurology, vol.