neuronal ceroid lipofuscinosis การใช้

• Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
• Neuronal ceroid lipofuscinosis ( NCL ) is a rare but serious disease that is limited to show Border Collies.
• Jansky Bielschowsky disease is also known as : late-infantile Batten disease, LINCL, or neuronal ceroid lipofuscinosis.
• Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement.
• Deficiency of " CTSD " gene has been reported an underlying cause of neuronal ceroid lipofuscinosis ( NCL ).
• Mutations in the " TPP1 " gene lead to late infantile neuronal ceroid lipofuscinosis, a fatal neurodegenerative disease of childhood.
• Mutations in this gene are associated with progressive epilepsy with mental retardation ( EPMR ), a subtype of neuronal ceroid lipofuscinosis ( NCL ).
• Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
• Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
• "' Jansky Bielschowsky disease "'is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis ( NCL ) family of neurodegenerative disorders.
• 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.
• 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.
• The OFA offers DNA certification for canine degenerative myelopathy, neuronal ceroid lipofuscinosis for American Bulldogs, Fanconi syndrome for Basenjis and Neonatal encephalopathy with seizures for Standard Poodles through an exclusive agreement with the University of Missouri.
• Abnormal accumulation of lipofuscin is associated with a group of diseases of neurodegenerative disorder type called lipofuscinoses, e . g ., neuronal ceroid lipofuscinosis, also known as Batten disease, as well as some other names.
• In June 1987, a Phase I clinical trial was launched at Weill Medical College of Cornell University to study a gene therapy method for treatment of the signs and symptoms of late infantile neuronal ceroid lipofuscinosis ( LINCL ).
• Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis ( CLN ) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis ( JNCL ) or Juvenile Batten disease.