Frontotemporal Dementia

JACKSONVILLE, Fla. — A test of protein in the blood gets further support as a biomarker for patients diagnosed with

JACKSONVILLE, Fla. — Researchers at Mayo Clinic in Florida have developed a mouse model that exhibits the neuropathological and behavioral features associated with the most common genetic form of amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and frontotemporal dementia (FTD), which are caused by a mutation in the C9ORF72 gene. They say their findings, reported today in Science, will speed further research into the molecular mechanism behind these disorders and that the animal model will offer a way to test potential therapeutic agents to halt the death of neurons in the brain and spinal cord. MEDIA CONTACT: Kevin Punsky, Mayo Clinic Public Affairs, 904-953-0746, punsky.kevin@mayo.edu Journalists: Sound bites with Dr. Petrucelli are available in the downloads. https://www.youtube.com/watch?v=ICxKfCy_m2c

https://www.youtube.com/watch?v=yuPT5_Fa82w Projects will help advance research through collaborations and development of novel strategies for frontotemporal dementia Rochester, Minn. — Mayo Clinic has been awarded two grants for large, five-year projects on frontotemporal dementia (FTD), characterized by degeneration of the frontal and temporal lobes of the brain. While rare, it may strike people in their twenties, even in their teens. MEDIA CONTACT: Duska Anastasijevic, Mayo Clinic Public Affairs, 507-284-5005, Email: newsbureau@mayo.edu Journalists: Sound bites are available in the downloads.

Potential biomarker discovered to monitor disease progression, therapy JACKSONVILLE, Fla. — A team of researchers at Mayo Clinic and The Scripps Research Institute in Florida have developed a new therapeutic strategy to combat the most common genetic risk factor for the neurodegenerative disorders amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and frontotemporal dementia (FTD). In the Aug. 14 issue of Neuron, they also report discovery of a potential biomarker to track disease progression and the efficacy of therapies. The scientists developed a small-molecule drug compound to prevent abnormal cellular processes caused by a mutation in the C9ORF72 gene. The findings come on the heels of previous discoveries by Mayo investigators that the C9ORF72 mutation produces an unusual repetitive genetic sequence that causes the buildup of abnormal RNA in brain cells and spinal cord. While toxic protein clumps have long been implicated in neurodegeneration, this new strategy takes aim at abnormal RNA, which forms before toxic proteins in C9ORF72-related disorders (c9FTD/ALS). “Our study shows that toxic RNA produced in people with the c9FTD/ALS mutation is indeed a viable drug target,” says the study’s co-senior investigator, Leonard Petrucelli, Ph.D., a molecular neuroscientist at Mayo Clinic in Florida. The compound, which was tested in cell culture models of c9FTD/ALS, bound to and blocked RNA’s ability to interact with other key proteins, thereby preventing the formation of toxic RNA clumps and “c9RAN proteins” that results from a process called repeat-associated non-ATG (RAN) translation. The researchers also discovered that c9RAN proteins produced by the abnormal RNA can be measured in the spinal fluid of ALS patients. They are now evaluating whether these proteins are also present in spinal fluid of patients diagnosed with FTD. Although ALS primarily affects motor neurons leading to impaired mobility, speech, swallowing, and respiratory function and FTD affects brain regions that support higher cognitive function, some patients have symptoms of both disorders. “Development of a readily accessible biomarker for the c9FTD/ALS mutation may aid not only diagnosis of these disorders and allow for tracking disease course in patients, but it could provide a more direct way to evaluate the response to experimental treatments,” says co-author Kevin Boylan, M.D., medical director of the Mayo Jacksonville ALS Center, the only ALS Certified Center of Excellence in Florida.

JACKSONVILLE, Flórida — Neurocientistas da Clínica Mayo de Jacksonville, Flórida, definiram um subtipo de doença de Alzheimer (DA) que não é bem identificada, nem tratada apropriadamente.   http://youtu.be/w4xQeNQVFoc A forma variante de Doença de Alzeimer que não afeta o hipocampo, representa 11% de um total de 1.821 casos de cérebros com Doenca de Alzeimer confirmados e examinados pelos pesquisadores da Clínica Mayo, o que sugere que esse subtipo é relativamente comum na população em geral. A Associação da Alzheimer estima que 5,2 milhões de americanos convivem com a doença de Alzheimer. E como quase a metade dos casos de DA que não afeta o  hipocampo não é diagnosticada corretamente, é possível significar que bem mais de 600.000 americanos têm essa variante da doença de Alzheimer, afirmam os pesquisadores.

JACKSONVILLE, Florida — Neurocientíficos de la Clínica Mayo en Jacksonville, Florida, han definido un subtipo de la enfermedad de Alzheimer (EA), que dicen no es ni reconocido ni tratado adecuadamente. http://youtu.be/w4xQeNQVFoc La variante de la enfermedad de Alzheimer que no afecta el hipocampo, conformó el 11% de los 1.821 cerebros confirmados con EA y examinados por investigadores de la Clínica Mayo, lo que sugiere que este subtipo está relativamente extendido en la población general. La Asociación de Alzheimer estima que 5,2 millones de estadounidenses viven con esta patología. Y con casi la mitad de los pacientes con la EA que no afecta el hipocampo siendo mal diagnosticados, podría significar que más de 600.000 estadounidenses presentan esta variante de la enfermedad, dicen los investigadores.

JACKSONVILLE, Fla. — Neuroscientists at Mayo Clinic in Florida have defined a subtype of Alzheimer’s disease (AD) that they say is neither well recognized nor treated appropriately. http://youtu.be/w4xQeNQVFoc The variant, called hippocampal sparing AD, made up 11 percent of the 1,821 AD-confirmed brains examined by Mayo Clinic researchers — suggesting this subtype is relatively widespread in the general population. The Alzheimer’s Association estimates that 5.2 million Americans are living with AD. And with nearly half of hippocampal sparing AD patients being misdiagnosed, this could mean that well over 600,000 Americans make up this AD variant, researchers say.

In this Mayo Clinic Radio Health Minute, Dr. Rosa Rademakers tells us about a potential breakthrough regarding research into two deadly disease...