ceroid lipofuscinosis, neuronal, type 2

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ceroid lipofuscinosis, neuronal, type 2

A form of neuronal ceroid lipofuscinosis (OMIM:204500), a group of progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material, and clinically characterised by seizures, dementia, visual loss and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.

Molecular pathology
Defects of TPPI, which encodes a member of the sedolisin family of serine proteases, cause neuronal ceroid lipofuscinosis type 2.
References in periodicals archive ?
Hastanin periferik kandan elde edilen DNA'sinin genetik incelemesinde CLN2 geninin ekson 10 kisminda E402X tipinde homozigot mutasyon saptanirken, anne ve babanin bu mutasyon icin tasiyici oldugu goruldu.
May 13 /PRNewswire/ -- Gene therapy to replace the faulty CLN2 gene, which causes a neurodegenerative disease that is fatal by age 8-12 years, was able to slow significantly the rate of neurologic decline in treated children, according to a paper published online ahead of print in the May 2008 issue (Vol.
CLN1, CLN2 and CLN3 represent a family of cyclins, which are needed for transition from the [G.
The patients with the classical late infantile form (CLN2) had severe epilepsy starting around the third year of life, loss of psychomotor functioning, characteristic curvilinear cell inclusions, and mutations in the CLN2 gene (7).
Infantile or late infantile NCL is brought on by inherited mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) or in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I), respectively.
Five genes (CLN1, CLN2, CLN3, CLN5, and CLN8) have been identified that are mutated in different forms of NCL: respectively, infantile NCL (1); late infantile NCL (2,3); classical juvenile NCL (4-6); Finnish variant late infantile NCL (7); and the progressive epilepsy with mental retardation (EPMR, also called Northern epilepsy) (8).
CLN2 deficiencies can lead to late infantile as well as juvenile onset disease (2), CLN1 deficiencies to infantile as well as late infantile and juvenile onset disease (3), and CLN3 deficiencies to juvenile as well as delayed onset disease (4,5)].
In infantile and late infantile NCL, the disorder is brought on by inherited mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) or in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I), respectively.
In the infantile and late infantile subtypes of NCL, the disorder is brought on by inherited mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) or in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I), respectively.
In two subtypes of NCL, infantile and late infantile, the disorder is brought on by inherited mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) or in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I).
In two subtypes of the NCLs, infantile and late infantile NCL, the disorders are brought on by inherited genetic mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) and in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I).
In two sub-types of the NCLs - infantile and late infantile or, more technically, CLN1 and CLN2 - normally secreted housekeeping lysosomal enzymes are either defective or missing altogether, as a result of gene mutations.