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3 unusual facts about Gaucher's disease


Anne Begg

Begg has been a wheelchair user since 1984 as she lives with the degenerative Gaucher's disease.

Kifunensine

In the lysosomal storage disorders Gaucher’s and Tay-Sachs disease, endoplasmic reticulum-associated degradation (ERAD) prevents the native folding of mutated lysosomal enzymes in a patient’s fibroblasts.

Philippe Gaucher

Gaucher is remembered for his description of the disorder that was to become known as Gaucher's disease.


Acetylcarnitine

ALCAR has been shown to be more effective than tamoxifen in improving the curvature and reducing the pain and plaque sizes for men who sought treatment for their Peyronie's disease early and having low curvature deformities.

Angus Reid

Reid missed three years of college football at Simon Fraser because of gastrointestinal problems linked to Crohn's disease but he played every CFL game from the 2002 to 2008 CFL seasons including the 92nd and 94th Grey Cups.

Antanas Mockus

On 9 April 2010 he announced that he had been diagnosed with Parkinson's disease.

APOE

Apolipoprotein E, a main apoprotein of the chylomicron, also studied for its involvement in Alzheimer's Disease risk.

Arthur O'Connell

At the time of his death from Alzheimer's disease in California in May 1981, O'Connell was appearing by his own choice solely in these commercials.

ASAH2B

ASAH2B shows reduced expression with increasing age and further reduction in late onset Alzheimer's disease patients.

Bill Lawton

Lawton died in Brighton on 14 August 2008 following a battle with Alzheimer's disease.

Bugula

In January 2008 a clinical trial was submitted to the United States National Institutes of Health to measure the safety and effectiveness of Bryostatin 1 in the treatment of Alzheimer's Disease.

Carol Carr

Carol Scott Carr (born 1939) is an American woman from the state of Georgia who became the center of a widely publicized debate over euthanasia when she killed her adult sons because they were suffering from Huntington's disease.

Cell therapy

Neural stem cells (NSCs) are the subject of ongoing research for possible therapeutic applications, for example for treating a number of neurological disorders such as Parkinson's disease and Huntington's disease.

Center for BrainHealth

All contributions support the cause of brain health and the Center’s many research focus areas-Alzheimer's disease, traumatic brain injury (TBI), autism, Attention Deficit Hyperactivity Disorder (ADHD), stroke, Post-Traumatic Stress Disorder (PTSD), Addiction, BrainHealth Physical, Dementia, Exercise and the Brain, Healthy Brain Aging, and Virtual Brain Training.

Cerlapirdine

Cerlapirdine (USAN; SAM-531, WAY-262,531, PF-05212365) is a drug which is under development by Wyeth/Pfizer for the treatment of cognitive disorders associated with Alzheimer's disease and schizophrenia.

Charles Enrique Dent

He began research into a hereditary disease of the kidneys which was greatly expanded by his pupil Oliver Wrong and named Dent's disease.

Charles Stoneham

For several years before his death, Stoneham had been suffering from a variety of physical ailments which were eventually diagnosed as symptoms of Bright's disease.

Charles W. Morse

In 1912 Morse became ill, and a panel of Army doctors declared that he suffered from Bright's disease and other maladies and would soon die if he remained in prison.

Charlotte Raven

In January 2010 she revealed that she had been diagnosed with Huntington's disease, an incurable hereditary disease, in January 2006 and had been contemplating suicide, an option she rejected after visiting a clinic in an area of Venezuela with a very high incidence of Huntington's Disease.

Conghua city yueyuan animal breeding farm

The monkeys are used scientific research, including gene therapy, cancer, Parkinson's, Alzheimer's, stem cells and antibody-based treatments.

Daniel Bekker

Bekker died on 22 October 2009 after a long struggle with Parkinson's and Alzheimer's diseases.

Elias Gaucher

Elias Gaucher was a prolific printer and publisher of clandestine erotica who worked out of the Malakoff and Vanves communes in the southwestern suburbs of Paris, France, about 3 miles from the centre of the City.

First Cousin Once Removed

Documentary about the life of poet, translator, critic and university professor Edwin Honig and his struggles with Alzheimer's disease.

Guy Gaucher

Guy Gaucher, born 5 March 1930, Tournan-en-Brie, is a French Catholic Discalced Carmelite religious.

Hereditary Disease Foundation

In 1968, after experiencing Huntington's disease (HD) in his wife's family, Dr. Milton Wexler was inspired to start the Hereditary Disease Foundation, with the aim of curing genetic illnesses by coordinating and supporting research.

Hes3 signaling axis

:* Activation of the signaling pathway by Delta4, Angiopoietin 2, insulin, or a combination of the three and a JAK inhibitor induces motor skill improvements in adult rat models of Parkinson's disease (6-hydroxydopamine model).

Hoxton Square

James Parkinson (1755–1824), the physician and author of An Essay on the Shaking Palsy, the subject of which is now known as Parkinson's disease, was in practice at 1 Hoxton Square, which is commemorated with a blue plaque on the site.

Hyperkinesia

Hyperkinesia is a state of excessive restlessness which is featured in a large variety of disorders that affect the ability to control motor movement, such as Huntington's disease.

Jean Kasem

In October 2013, Kerri Kasem, one of Casey Kasem's three children from his first marriage, said her father was suffering from Parkinson's disease.

Jean-Louis Tauran

In spite of having Parkinson's disease, Tauran was appointed as president of the Pontifical Council for Interreligious Dialogue on 25 June 2007, showing that the disease was not getting worse and he was able to handle more responsibility.

Larry Whiteside

Whiteside developed Parkinson's disease early in the 21st century, which led to the end of his career with The Boston Globe in 2004.

Low-threshold spikes

Therefore, much research has been conducted on low-threshold spikes in the neurons in the thalamus and how it could relate to Parkinson's disease and the corresponding loss of motor function.

Mieczysław Weinberg

Towards the end of his life, Weinberg suffered from Crohn's disease and remained housebound for the last three years, although he continued to compose.

Muscimol

In patients with Huntington's disease and chronic schizophrenia, oral doses of muscimol have been found to cause a rise of both prolactin and growth hormone.

Music therapy for Alzheimer's disease

Music therapy (MT) is one of the most common treatments for Alzheimer's disease (AD).

My Angel My Hero

The film tells the story of a young boy Billy (Dakim Wills), who is suffering from Parkinson's disease and dances in New York City subway and streets.

He eventually finds an inspiration by meeting a former Investment Banker, Da (Faizan Sheikh) and together they discover the advantages of dance towards Parkinson's disease.

Mycobacterium avium subspecies paratuberculosis

On the assumption that MAP is a causative agent in Crohn's disease, the Australian biotechnology company Giaconda is seeking to commercialize a combination of rifabutin, clarithromycin, and clofazimine as a potential drug therapy, called Myoconda, for Crohn's.

Parkinson Association of the Rockies

The Parkinson Association of the Rockies (PAR) is a Colorado care and research not-for-profit organization whose aim is to enhance the quality of life for individuals with Parkinson's disease through education, research, awareness and support for those with Parkinson's disease, their families and the community.

Presenilin

They were first identified in screens for mutations causing early onset forms of familial Alzheimer's Disease by Peter St George-Hyslop at the Centre for Research in Neurodegenerative Diseases at the University of Toronto, and now also at the University of Cambridge.

Protein losing enteropathy

Causes of protein losing enteropathy include celiac disease, Crohn's disease, short bowel syndrome (where the absorptive area for proteins is decreased), intestinal lymphangiectasia, amyloidosis, enteropathy caused by NSAIDs, Ménétrier's disease, dyskeratosis congenita, IPEX and giardiasis.

Rivastigmine

Rivastigmine (sold under the trade name Exelon) is a parasympathomimetic or cholinergic agent for the treatment of mild to moderate dementia of the Alzheimer’s type and dementia due to Parkinson's disease.

Robert L. Miller

In his last four years, Miller was afflicted with Alzheimer's disease.

Rogelio Frigerio

Frigerio lost his friend, Arturo Frondizi, to Parkinson's disease in 1995, and his own health declined subsequently.

Solid-state nuclear magnetic resonance

Membrane proteins and amyloid fibrils, the latter related to Alzheimer's disease and Parkinson's disease, are two examples of application where solid-state NMR spectroscopy complements solution-state NMR spectroscopy and beam diffraction methods (e.g. X-ray crystallography, electron microscopy).

Stacy Smith

Smith has been honored as a co-anchor with awards from the Associated Press and United Press International, and for reports on Thomas Starzl and on Alzheimer's disease.

Synaptic fatigue

Hallmarks of Alzheimer's disease (AD) are impairment of cognition, aggregation of β-amyloid peptide (Aβ), neurofibrillary degeneration, loss of neurons with accelerated atrophy of specific brain areas, and decrease of synapse number in surviving neurons.

Tara Devi

After this tragedy, she became physically unfit and later was diagnosed with Parkinson's disease.

The Swedish Parkinson Academy

The main aim of the academy is to stimulate preclinical and clinical research related to Parkinson's disease, especially to support translational projects (projects bridging the border between preclinical and clinical research, bringing promising preclinical results to clinical studies).

Thioflavin

The dye is widely used to visualize and quantify the presence of misfolded protein aggregates called amyloid, both in vitro and in vivo (e.g., plaques composed of amyloid beta found in the brains of Alzheimer's disease patients).

Victoria Glendinning

Her second husband Terence de Vere White died of Parkinson's disease in 1994 and in 1996 she married Kevin O'Sullivan.


see also