Confocal image of a spinal motor neuron showing stained lipofuscin granules in blue and yellow.
Specialty
Endocrinology
Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues.[1] These lipopigments are made up of fats and proteins. Their name comes from the word stem "lipo-", which is a variation on lipid, and from the term "pigment", used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.
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Neuronalceroidlipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that...
disease or Santavuori-Haltia disease or Infantile Finnish type neuronalceroidlipofuscinosis or Balkan disease is a form of NCL and inherited as a recessive...
accumulation of lipofuscin known as lipofuscinosis is associated with a family of neurodegenerative disorders – neuronalceroid lipofuscinoses, the most common...
recessive. It is the common name for a group of disorders called the neuronalceroid lipofuscinoses (NCLs). Although Batten disease is usually regarded...
in the "out of standard" nonworking stock.[citation needed] Neuronalceroidlipofuscinosis (NCL) has been identified in some American Bulldogs. The American...
ACD gene. Mutations in the TPP1 gene leads to late infantile neuronalceroidlipofuscinosis. The human gene TPP1 encodes a member of the sedolisin family...
lysosomal residual bodies in the epithelial cells of sweat glands. Neuronalceroidlipofuscinosis causes abnormal deposits of lipopigment in sweat gland epithelial...
symptomatic children over three years old with late infantile neuronalceroidlipofuscinosis type 2 (CLN2). The disease is also known as tripeptidyl peptidase-1...
Deficiency of CTSD gene has been reported an underlying cause of neuronalceroidlipofuscinosis (NCL). The CTSD gene is located at chromosome 11. The catalytic...
Ceroid-lipofuscinosisneuronal protein 6 is a protein that in humans is encoded by the CLN6 gene. The CLN6 protein is part of the EGRESS complex (ER-to-Golgi...
the genetic cause of adult-onset hearing loss in the breed. Neuronalceroidlipofuscinosis (NCL) is a rare but serious disease that is limited to show...
one of many diseases categorized under a disorder known as neuronalceroidlipofuscinosis (NCLs) or Batten disease. NCLs are broadly described to create...
Native chemical ligation, a chemical way to synthesize proteins Neuronalceroidlipofuscinosis, neurodegenerative disorders nidopallium caudolaterale, part...
addition, Tibetan Terriers can carry the genetic disease canine neuronalceroidlipofuscinosis, called Batten disease in humans. The first symptom of the disease...
progressive epilepsy with mental retardation (EPMR), is a subtype of neuronalceroidlipofuscinosis and a rare disease that is regarded as a Finnish heritage disease...
offers DNA certification for canine degenerative myelopathy, neuronalceroidlipofuscinosis for American Bulldogs, Fanconi syndrome for Basenjis, and neonatal...
declination of mental functioning, and involuntary shaking. Neuronalceroidlipofuscinosis is a group of diseases that cause blindness, loss of mental...
progressive epilepsy with mental retardation (EPMR), a subtype of neuronalceroidlipofuscinosis (NCL). Patients with mutations in this gene have altered levels...
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