Degenerative disease is the result of a continuous process based on degenerative cell changes, affecting tissues or organs, which will increasingly deteriorate over time.
Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).
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. 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.
Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16. Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter. In humans, it belongs to the atypical SLCs due to its structural and phylogenetic similarity to other SLC transporters.
Tripeptidyl-peptidase 1, also known as Lysosomal pepstatin-insensitive protease, is an enzyme that in humans is encoded by the TPP1 gene. TPP1 should not be confused with the TPP1 shelterin protein which protects telomeres and is encoded by the ACD gene. Mutations in the TPP1 gene leads to late infantile neuronal ceroid lipofuscinosis.
Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.
Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene. Symptoms appear between ages 2 and 4 and consist of typical neurodegenerative complications: loss of muscle function (ataxia), drug resistant seizures (epilepsy), apraxia, development of muscle twitches (myoclonus), and vision impairment. This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens. The prevalence of Jansky–Bielschowsky disease is unknown; however, NCL collectively affects an estimated 1 in 100,000 individuals worldwide. Jansky–Bielschowsky disease is related to late-infantile Batten disease and LINCL, and is under the umbrella of neuronal ceroid lipofuscinosis.
Cerliponase alfa, marketed as Brineura, is an enzyme replacement treatment for Batten disease, a neurodegenerative lysosomal storage disease. Specifically, Cerliponase alfa is meant to slow loss of motor function in symptomatic children over three years old with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). The disease is also known as tripeptidyl peptidase-1 (TPP1) deficiency, a soluble lysosomal enzyme deficiency. Approved by the United States Food and Drug Administration (FDA) on 27 April 2017, this is the first treatment for a neuronal ceroid lipofuscinosis of its kind, acting to slow disease progression rather than palliatively treat symptoms by giving patients the TPP1 enzyme they are lacking.
Sara Elizabeth Mole Crowley is a Professor of Molecular Cell Biology and Provost's Envoy for Gender Equality at University College London and the Great Ormond Street Hospital. She works on diseases caused by genetic changes, in particular neurodegenerative diseases that impact children.
Erika F. Augustine is an Associate Chief Science Officer and Director of the Clinical Trials Unit at Kennedy Krieger Institute. She was previously an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center in Rochester, New York. Augustine co-directed the University of Rochester Batten Center, and was the associate director of both the Center for Health and Technology and the Udall Center of Excellence in Parkinson's Disease Research. Augustine's clinical research and medical practice specialize in pediatric movement disorders. She leads clinical trials for Batten diseases, a group of rare pediatric neurodegenerative disorders, and she has developed a novel telemedicine model to increase the efficacy of remote care for patients with rare diseases.
Dianne Sika-Paotonu is a New Zealand immunologist, biomedical scientist and academic in the Department of Pathology and Molecular Medicine and Associate Dean (Pacific) at the University of Otago Wellington. She is of Tongan descent and is the first Pasifika biomedical scientist to receive the Cranwell Medal for science communication in 2020 and the 2022 Prime Minister's Science Communicator of the Year prize.
Bronwen Jane Connor is a New Zealand academic. She is a professor of pharmacology at the University of Auckland, where she is head of the Neural Reprogramming and Repair Lab.
Roslyn A. Kemp is a New Zealand immunologist, and as of 2023 is a full professor at the University of Otago. Her research focuses on T cells, mucosal and tumour immune responses, inflammation and T cell memory.
Merilyn Hibma is a New Zealand viral immunologist, and is a full professor at the University of Otago, specialising in immune regulation by viruses, especially human papillomavirus, the causative agent of cervical cancer.
Annemarei Ranta is a New Zealand academic neurologist, and is a full professor at the University of Otago, specialising in stroke care.
Catherine Ann Malcolm Stedman is a New Zealand pharmacologist and gastroenterologist, and is a clinical professor at the University of Otago, specialising in hepatitis C drug development. She is the first woman gastroenterologist to become a professor of medicine in New Zealand.
Rebecca Grainger is a New Zealand academic rheumatologist, and is a full professor at the University of Otago, specialising in rheumatoid arthritis and osteoarthritis, and gout. She is also interested in the use of technology for medical education and digital health.
Gisela Sole is a South African–New Zealand academic physiotherapist, and is a full professor at the University of Otago, specialising in sports injuries and management of musculoskeletal conditions.
Gabriele Ursula Dachs is a New Zealand academic, and is a full professor at the University of Otago, specialising in the how cancer cells respond to hypoxia, and developing novel treatments for cancer.
