Deficiency of " CTSD " gene has been reported an underlying cause of neuronal ceroid lipofuscinosis ( NCL ).
12.
Mutations in the " TPP1 " gene lead to late infantile neuronal ceroid lipofuscinosis, a fatal neurodegenerative disease of childhood.
13.
Mutations in this gene are associated with progressive epilepsy with mental retardation ( EPMR ), a subtype of neuronal ceroid lipofuscinosis ( NCL ).
14.
Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
15.
Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
16.
The neuronal ceroid lipofuscinoses ( NCLs ) are a group of inherited neurodegenerative disorders with pathological phenotypes that auto fluorescent lipopigments present in neurons and other cell types.
17.
The luminal cells will often have decapitation ( apocrine ) secretions and will also have yellow-brown, ceroid, lipofuscin-like ( cerumen ) pigment granules.
18.
"' Jansky Bielschowsky disease "'is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis ( NCL ) family of neurodegenerative disorders.
19.
Mutations of gene " TPP1 " result in late-infantile neuronal ceroid lipofuscinosis which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome.
20.
In 2 Mexican siblings with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, a homozygous mutation in the KCTD7 gene ( R184C ) has been identified.
