Neuronal ceroid lipofuscinosis is a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive...
39 KB (4,405 words) - 16:49, 26 October 2024
disease or Santavuori–Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis or Balkan disease is a form of NCL and inherited as a recessive...
5 KB (326 words) - 14:36, 15 August 2024
recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). Although Batten disease is usually regarded...
31 KB (3,428 words) - 15:16, 18 October 2024
in the "out of standard" nonworking stock.[citation needed] Neuronal ceroid lipofuscinosis (NCL) has been identified in some American Bulldogs. The American...
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Granulin (section Neuronal ceroid lipofuscinosis)
decrease lysosomal protease activity and lymphoblasts containing neuronal ceroid lipofuscinosis-like storage material. FTLD-GRN IPSC cortical Neurons have enlarged...
32 KB (3,334 words) - 03:20, 29 November 2023
Lipofuscin (redirect from Ceroid)
accumulation of lipofuscin known as lipofuscinosis is associated with a family of neurodegenerative disorders – neuronal ceroid lipofuscinoses, the most common...
16 KB (1,699 words) - 07:34, 3 June 2024
lysosomal residual bodies in the epithelial cells of sweat glands. Neuronal ceroid lipofuscinosis causes abnormal deposits of lipopigment in sweat gland epithelial...
44 KB (4,611 words) - 15:27, 2 November 2024
ACD gene. Mutations in the TPP1 gene leads to late-infantile neuronal ceroid lipofuscinosis. The human gene TPP1 encodes a member of the sedolisin family...
14 KB (1,650 words) - 22:14, 2 October 2024
rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by...
8 KB (798 words) - 16:12, 28 October 2024
crossbreeds. Tibetan Terriers can carry the genetic disease canine neuronal ceroid lipofuscinosis, called Batten disease in humans. The first symptom of the disease...
14 KB (1,646 words) - 04:24, 19 October 2024
symptomatic children over three years old with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). The disease is also known as tripeptidyl peptidase-1...
19 KB (1,800 words) - 07:30, 15 July 2024
one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs) or Batten disease. NCLs are broadly described to create...
7 KB (841 words) - 19:58, 25 September 2024
hypoplasia Ceroid lipofuscinosis, neuronal, 1 Ceroid lipofuscinosis, neuronal, 3 Ceroid lipofuscinosis, neuronal, 5 Ceroid lipofuscinosis, neuronal, 8, Northern...
13 KB (1,459 words) - 14:53, 10 October 2024
the exact causal mutation(s) have not so far been located. Neuronal ceroid lipofuscinosis (NCL) is a rare but serious disease that is limited to show...
48 KB (5,518 words) - 20:22, 20 October 2024
Multiple system atrophy (Shy–Drager syndrome) Neuroacanthocytosis Neuronal ceroid lipofuscinosis Olivopontocerebellar atrophy Pantothenate kinase-associated...
26 KB (2,303 words) - 01:59, 29 July 2024
declination of mental functioning, and involuntary shaking. Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental...
16 KB (1,040 words) - 17:50, 7 November 2023
Deficiency of CTSD gene has been reported an underlying cause of neuronal ceroid lipofuscinosis (NCL). The CTSD gene is located at chromosome 11. The catalytic...
23 KB (2,623 words) - 00:03, 3 October 2024
Syndrome Nail–patella syndrome Neonatal jaundice Neurofibromatosis Neuronal ceroid lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome...
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progressive epilepsy with mental retardation (EPMR), is a subtype of neuronal ceroid lipofuscinosis and a rare disease that is regarded as a Finnish heritage disease...
9 KB (1,065 words) - 01:40, 22 February 2024
Neuromyotonia Neuronal ceroid lipofuscinosis Neuronal heterotopia Neuronal interstitial dysplasia Neuronal intestinal pseudoobstruction Neuronal intranuclear...
8 KB (654 words) - 16:03, 15 March 2024
dementia, by British neurologist Frederick Batten in 1903. Neuronal ceroid lipofuscinosis Batten disease Lysosomal storage disease Neurodegenerative disease...
13 KB (1,184 words) - 05:25, 25 October 2024
epilepsy with ragged red fibers (MERRF syndrome), Lafora disease, neuronal ceroid lipofuscinosis, and sialidosis. The latest 2017 ILAE classification of epilepsy...
42 KB (5,490 words) - 01:47, 6 September 2024
Native chemical ligation, a chemical way to synthesize proteins Neuronal ceroid lipofuscinosis, neurodegenerative disorders nidopallium caudolaterale, part...
2 KB (223 words) - 20:21, 22 July 2020
Ceroid-lipofuscinosis neuronal 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...
7 KB (919 words) - 22:14, 28 November 2023
in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. The most common mutation results in intracellular accumulation...
5 KB (446 words) - 01:39, 9 January 2024
sclerosis (MS) Multiple system atrophy Muscular dystrophies (MD) Neuronal ceroid lipofuscinosis Niemann–Pick diseases Osteoarthritis Osteoporosis Parkinson's...
16 KB (1,643 words) - 13:32, 29 July 2024
trust Sri Lanka (Ceylon), ITU country code Genes related to neuronal ceroid lipofuscinosis: CLN3, CLN5, CLN6, CLN8 This disambiguation page lists articles...
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inclusion bodies seen in Neurons in layer 5 of cerebral cortex neuronal ceroid lipofuscinosis (Batten disease). Nuclear inclusion bodies seen in Lead poisoning...
12 KB (1,198 words) - 05:06, 4 August 2024
Neurofibromatosis Neuroleptic malignant syndrome Neuromyotonia Neuronal ceroid lipofuscinosis Neuronal migration disorders Neuropathy Neurosis Niemann–Pick disease...
13 KB (1,143 words) - 03:22, 23 October 2024
replacement treatment for Batten disease, which is a form of neuronal ceroid lipofuscinosis. It was approved in 2017. Valoctocogene roxaparvovec (branded...
19 KB (1,679 words) - 14:00, 30 August 2024