Ataxia

Scientists Track Impact of DNA Damage in the Developing Brain

...ht evidence linking single-strand DNA damage with human diseases, including ataxia with oculomotor apraxia (AOA1) and spinocerebellar ataxia with axonal neuropathy (SCAN1). Both disorders are inherited and are charac...

U-M Researchers ID Gene Involved in Pancreatic Cancer

... Center have identified a gene that is overexpressed in 90 percent of pancreatic cancers, the most deadly type of cancer. Expression of the gene, ataxia Telangiectasia Group D Complementing gene, called ATDC, is on average 20 times higher in pancreatic cancer cells than in cells from a normal pancreas....

Stemedica Medical Team Cautions Patients About Stem Cell Therapy & Comments on PLoS Medicine Article

... by visiting www.fda.gov/cber/compliance.htm . The report in PLoS, Donor-Derived Brain Tumor Following Neural Stem Cell Transplantation in an ataxia Telangiectasia Patient , describes the development of multifocal glioneuronal neoplasms along the spinal nerves and brain stem in a 13-year-old patien...

Tumors Linked to Fetal Stem Cell Transplant

...long the brain and spine of a boy about four years after he began receiving the neural fetal stem cell treatment for a rare neurodegenerative disease, ataxia telangiectasia, that also weakens the immune system. Israeli researchers from Sheba Medical Center in Tel Aviv studied the surgically removed spinal c...

Dr. Huda Zoghbi to receive 2009 Vilcek Prize in biomedical research

... to wait, however, as too little data was available at the time to make it the launch point of her new career. Instead, she focused on spinocerebellar ataxia type 1 (SCA1), a crippling, neurodegenerative disease that affects balance and coordination. In 1988, she set up her own laboratory at Baylor College ...

Breakthrough in cell-type analysis offers new ways to study development and disease

...through development and examine the detailed properties of cells as they succumb to the pathological events occurring in neurological diseases such as ataxia telangiectasia, autism and Rett syndrome," says Heintz. "We are very excited by the opportunities this offers to us and our colleagues for investigati...

Does HBV infection induce acute cellular DNA damage?

...tegies of checkpoint signaling and DNA repair mechanisms to monitor and repair damaged DNA. There are two branches of the checkpoint response pathway, ataxia telangiectasia-mutated (ATM) pathway and ATM-Rad3-related (ATR) pathway. Virus replication presents the host cells with large amounts of exogenous gen...

Repligen Reports Second Quarter Fiscal Year 2009 Financial Results

...-BP-C (p=0.04). HDAC Inhibitors for Friedreich's ataxia and Huntington's Disease We are currently develo...ed neurodegenerative diseases such as Friedreich's ataxia and Huntington's disease. We have identified sever...ciation and a $125,000 grant from the Friedreich's ataxia Research Alliance and the National...

Springer to publish the Cerebellum

... to Springers neuroscience portfolio. The Cerebellum is a quarterly, international journal devoted to the science of the cerebellum and its role in ataxia and other medical disorders. Areas of particular interest include fundamental neurosciences (including molecular and cellular biology), behavioral ne...

Potential Brain Cancer Drug for Children May Damage Bones

...ncerous brain tumor in children. Because conventional treatment with surgery, radiation and chemotherapy causes serious long-term side effects such as ataxia (a movement disorder) and cognitive impairments, the researchers sought novel, less toxic treatments for medulloblastoma. In 2001, using genetic e...

Ataxia in Medical Technology

Study Shows How Defective DNA Repair Triggers Two Neurological Diseases

... St. Jude scientists' findings in ataxia telangiectasia-like disease and Nijmegen breakage syndrome offer insight into the links between brain disease and cancer vulnerability in people carry...

Retigabine Significantly Reduces the Number of Seizures in Adults With Inadequately Controlled Partial-Onset Epilepsy

...E trials occurring in greater than or equal to 10 percent of patients included dizziness, somnolence, fatigue, confusion, dysarthria (slurred speech), ataxia (loss of muscle coordination), urinary tract infection, blurred vision, tremor, and nausea. Urinary bladder effects, while monitored during the studie...

Boston University and The Center for Human Genetics, Inc. Announce Change in Testing Services

... gene, Duchene's muscular dystrophy, myotonic dystrophy (DM1), Freidreich's ataxia (FRDA), hereditary neuropathy with pressure palsies, polycystic kidney disease, spinal muscular atrophy (SMN1), spinocerebellar ataxia (SCA1, 2, 3, 6, 7 and 8) and tuberous sclerosis (type 2). This decision fol...

CellCept(R) and a Reduced Level of CNI Shows Trend Towards Preservation of Kidney Function Versus a Standard-Dose CNI

...pathy (PML), sometimes fatal, have been reported in patients treated with CellCept. Hemiparesis, apathy, confusion, cognitive deficiencies and ataxia were the most frequent clinical features observed. The reported cases generally had risk factors for PML, including treatment with immunos...

Final Results of the CellCept(R) Spare the Nephron (STN) Study Show Maintenance Therapy is Associated with Improved Renal Function

...pathy (PML), sometimes fatal, have been reported in patients treated with CellCept. Hemiparesis, apathy, confusion, cognitive deficiencies and ataxia were the most frequent clinical features observed. The reported cases generally had risk factors for PML, including treatment with immuno...

Ataxia in Medical Definition

Familial isolated vitamin e deficiency

...3 Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms are much like those of Friedreich ataxia and is caused by mutations in the gene for a-tocopherol transfer protein. ...

Ataxia in Medical Dictionary

Ataxia

Ataxia is a neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. Several possible... ataxia also a...

Telangiectasia

...langiectasia (Osler-Weber-Rendu syndrome) ... ataxia - telangiectasia . Bloom syndrome. Cutis marmorat...sels typical of telangiectasia . Overview ... ataxia telangiectasia (A-T) information page compiled b...eurological Disorders ... Home " Disorders A - Z " ataxia Telangiectasia " ... Ataxia- telangiectasia ...

Multiple system atrophy

...and Caregivers (see table of ... FAQ on the sporadic, progressive, adult onset disorder characterized by autonomic dysfunction, Parkinsonism, and ataxia in any combination. Multiple system atrophy is a rare neurological disorder characterized by a ... The term " Multiple System Atrophy "...

Ataxia Telangiectasia

... ataxia telangiectasia (A-T) is a rare, neurodegenerati...y parts of the body and causes severe disability. ataxia refers to poor coordination and telangiectasia to small dilated blood... ataxia telangiectasia (A-T) information page compiled ...

Ataxia in Biological News

Molecular basis for neurodegeneration in Ataxia telangiectasia

An upcoming paper from Dr. David Wassarman (University of Wisconsin School of Medicine and Public Health) in the May 1 issue of G&D lends new insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia. Ataxia telangiectasia (A-T) is a rare, genetic immunodeficiency disease that...

U of MN researchers identify ataxia gene

Researchers at the University of Minnesota Medical School have discovered the gene responsible for a type of ataxia, an incurable degenerative brain disease affecting movement and coordination. This is the first neurodegenerative disease shown to be caused by mutations in the protein â-III spectr...

Scientists track impact of DNA damage in the developing brain

...ht evidence linking single-strand DNA damage with human diseases, including ataxia with oculomotor apraxia (AOA1) and spinocerebellar ataxia with axonal neuropathy (SCAN1). Both disorders are inherited and are charac...

U-M researchers ID gene involved in pancreatic cancer

...er Center have identified a gene that is overexpressed in 90 percent of pancreatic cancers, the most deadly type of cancer. Expression of the gene, ataxia Telangiectasia Group D Complementing gene, called ATDC, is on average 20 times higher in pancreatic cancer cells than in cells from a normal pancreas....

'Deranged calcium signaling' contributes to neurological disorder, UT Southwestern researchers find

...ouse study. The disease, called spinocerebellar ataxia 3 also known as SCA3, or Machado-Joseph disease ...ition is one of the most common inherited forms of ataxia and most frequently affects people of Portuguese d...neurodegenerative diseases such as spinocerebellar ataxia type 2 and Alzheimer's disease. ...

International team discovers gene associated with epilepsy

...d came from one of three family lines. Of the 47 individuals in the three family lines, 23 had a form of progressive myoclonus epilepsy accompanied by ataxia -- a condition that causes imbalance. One family line has been extensively described by Hatem El-Shanti, M.D., a University of Iowa adjunct profes...

Seemingly suicidal stunt is normal rite of passage for immune cells

...ys outside of the previously recognized responses to DNA damage? We don't know yet." The finding immediately improved scientists' understanding of ataxia telangiectasia, a rare genetic disorder that, among other symptoms, can weaken the immune system. Patients with the disorder have a mutation in a gene...

Protein 'chatter' linked to cancer activation

...ut non-curable cancer-predisposed human disorders: ataxia telangiectasia, ataxia telangiectasia-like disorder, and Nijmegen breakag...er risk of cancer. Zhu adds that patients with ataxia telangiectasia,...

Moonlighting enzyme linked to neurodegenerative disease

... Friedreich's ataxia is one of those diseases few have heard of unless ...ctly what is happening to them." Friedreich's ataxia is an inherited neurodegenerative disease of child... says Dr. Isaya. The severity of Friedreich's ataxia is proportional to the decrease in the levels of f...

Ghost protein leaves fresh tracks in the cell

...etic lesions in diseases such as hereditary anemia, Duchenne muscular dystrophy, cardiac arrhythmia and the degenerative brain disease spinocerebellar ataxia 5. "As we learn more about mutations involving spectrin and their relationships to human diseases, we're going to have more and more questions abo...

Ataxia in Biological Technology

Repligen Receives Research Grants to Support Friedreich's Ataxia Development Program

WALTHAM, Mass., Sept. 4 /PRNewswire-FirstCall/ -- Repligen Corporation (Nasdaq: RGEN ) today announced that the Company has received $1.125 million in research grants to support the development of new treatments for Friedreich's ataxia. The grants are comprised of $1 million from the Muscular...

European EMEA Acceptance of Marketing Authorization Application Filing for SNT-MC17 in Friedreich's Ataxia by Santhera

LIESTAL, Switzerland and OSAKA, Japan, August 16 /PRNewswire-FirstCall/ -- Santhera Pharmaceuticals (SWX: SANN, "Santhera"), a Swiss specialty pharmaceutical company with a focus on neuromuscular diseases, and Takeda Pharmaceutical Company Limited (TSE:4502, "Takeda"), jointly announced today ...

Repligen Reports First Quarter Fiscal Year 2010 Financial Results

...nt would remain in force until at least 2025. More than five million adults worldwide have bipolar disorder. HDAC Inhibitors for Friedreich's ataxia We are currently developing inhibitors of histone deacetylase enzymes (HDACs) for the treatment of inherited neurodegenerative diseases such as Fri...

Repligen Reports Fourth Quarter and Fiscal Year 2009 Financial Results

...s in the U.S. have bipolar disorder. HDAC Inhibitors for Friedreich's ataxia and Huntington's Disease We are currently developing inhibitors of histo... the treatment of inherited neurodegenerative diseases such as Friedreich's ataxia and Huntington's disease. Preclinical studies have shown that HDAC inhibit...

Repligen Reports Third Quarter Fiscal Year 2009 Financial Results

...the MADRS (p=0.01) and the CGI-BP-C (p=0.04). RG2833 for Friedreich's ataxia and Huntington's Disease We are currently developing inhibitors of histo...ting progressive, inherited neurodegenerative diseases such as Friedreich's ataxia and Huntington's disease. We have identified several potential clinical ca...

Large-scale genetic study sheds new light on lung cancer

...der characterized by unchecked growth of tissue of the nervous system. ataxia Telengiectasia Mutated (ATM). ATM mutations have previously been shown to play a role in ataxia telangiectasia, which is a rare inherited neurological disorder of childhoo...

Repligen Announces Publication of Positive Results with Proprietary HDAC Inhibitor in Huntington's Disease Model

...icer of Repligen Corporation. "We plan to continue to evaluate the utility of our novel HDAC inhibitors as a potential treatment for both Friedreich's ataxia and Huntington's disease." Huntington's disease is caused by a trinucleotide repeat expansion in the Huntington's disease gene (Htt) that results in...

Repligen Reports Fourth Quarter and Fiscal Year 2008 Financial Results

... which may be useful in monitoring the biochemical activity and guiding the dosing frequency of a clinical candidate in patients. Go FAR (Friedreich's ataxia Research) is a fundraising organization headquartered in Turin, Italy formed by the non-profit group RUDI Onlus Committee, dedicated to raising donati...

Historic Breakthrough in Fighting Children's Batten Disease as China Stem Cells Give New Lease on Life to 6 Year Old California Boy

... rapidly and always ends in death sometime between ages 8 and 12. The typical early signs of this type of NCL are loss of muscle coordination known as ataxia and seizures, along with progressive mental deterioration. Blake has suffered all these symptoms in the past year. Batten Disease/NCL as a whole is re...

Stem Cell Leader Beike Biotech and China's Tsinghua University Receive US$4 Million for Stem Cell Reprogramming Laboratory

...tients suffering from a range of debilitating illnesses, such as spinal cord injury, cerebral palsy, optic nerve hypoplasia, multiple sclerosis and ataxia stand to benefit from a new laboratory, established with a Chinese Government grant. Such a facility will put China at the forefront of the global ...

Ataxia in Biological Definition

Diabetes mellitus

...eatitis , hepatic steatosis (fatty liver), cystic fibrosis , several mitochondrial neuropathies and myopathies, myotonic dystrophy , Friedreich's ataxia , some of the inherited forms of neonatal hyperinsulinism and many others. Risk of diabetes is higher with chronic use of several medications, includ...

Ataxia in Biological Dictionary

Cyanobacteria

...cells of the cyanobacteria are joined in threads that are surrounded by a ... Intoxication with cyanobacteria is characterized by convulsions, ataxia (in ... Cyanobacteria congregate on or near the water surface. ... Cyanobacteria (blue-green algae) Mitochondria and Chloroplasts. Properties o...