Tag: "ataxia" at biology news
In Nature paper, scientists at U.Va. health system crack part of 'histone' code
...are neurological disorder called spinal cerebellar ataxia
type 7 that causes neurodegeneration and blindness. Grant believes that Chd1 and SAGA interaction may be vital for normal brain development and function. Grant said that, until his discovery, there have been very few proteins identified that re...
Researchers feed tiny pills of RNA to planarians to identify genes essential for regeneration
...d to human genes associated with diseases, such as ataxia
(inability to coordinate muscular movements), bradyopsia (slow vision), and cancer. Only eight of those genes have a corresponding knockout gene in mice. This means researchers may be able to use planarians to learn about human diseases that can't be...
Dartmouth Medical School researchers identify enzymatic activity of neurological disease gene
... second leading cause of an early onset hereditary ataxia
termed ataxia-oculomotor apraxia 1. Early onset ataxias are progressive, neurological disorders, with the patients losing balance and motor coordination in their hands and legs, and suffering from other symptoms such as controlling ocular movements....
Other highlights in the June 1 JNCI
...ations in both of the ATM gene are responsible for ataxia
telangiectasia (A-T), a rare autosomal recessive neurologic disorder. A-T patients have a higher risk of developing childhood lymphoid leukemias and lymphomas in addition to epithelial tumors later in life. Studies have also indicated that individual...
Fragile X-related disorder difficult to diagnose; guidelines suggested in new study
...TAS. "Men age 50 and older who develop unexplained ataxia
should undergo testing to check if they have the F... in Ireland examined a 70-year-old woman with mild ataxia
and tremor that became severe after receiving chemotherapy to treat breast cancer. She had two sons ...
Solving the mystery of mutated proteins and the brain
... the case of ataxin-1, the disease spinocerebellar ataxia
type 1 results. While this disease is rare, the f...ghbi. As she found previously, in spinocerebellar ataxia
type 1, the ataxin-1 gene has an abnormally high number of repeated bases, the distinctive chemical ...
Pinpointing the cause of a neurodegenerative disorder
...he rare neurodegenerative disorder spinocerebellar ataxia
type 1 (SCA1) suffer damage to cerebellar Purkinje cells caused by a toxic buildup of the protein Ataxin-1. Researchers knew that SCA1, Huntington's disease and other related disorders arise because of a "genetic stutter," in which a mutation causes ...
Study points to molecular origin of neurodegenerative disorders, including Huntington's disease
...lude spinobulbar muscular atrophy; spinocerebellar ataxia
types 1, 2, 3, 6, 7 and 17; and dentatorubral-pallidoluysian atrophy, or Haw River Syndrome. Haw River Syndrome is a genetic brain disorder first identified in 1998 in five generations of a family having ancestors born in Haw River, N.C. The disorder...
Baylor Human Genome Sequence Center key player in mapping human genetic variation
... neurodegenerative disorder called spinocerebellar ataxia
type 2. A report of this work appears in the latest issue of the Public Library of Science Genetics at http://genetics.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pgen.0010041.eor The completed HapMap paves the way for furt...
U of MN researchers identify ataxia gene
...gnoses and gives us new insight into the causes of ataxia
and other neurodegenerative diseases, an important...le have a genetic form of ataxia. Spinocerebellar ataxia
type 5 (SCA5) is a dominant gene disorder; if a parent has the disease, each of their children has a...
Mutation in brain cells of descendants of Abraham Lincoln suggest he suffered from movement disorder
... causes a movement disorder called spinocerebellar ataxia
type 5 (SCA5), however, appears to offer much stro...al interest and would increase public awareness of ataxia
and neurodegenerative disease," Rothstein said. The finding also has wider implications because simi...
Study implicates potassium channel mutations in neurodegeneration and mental retardation
...enerative movement disorder called spinocerebellar ataxia
in a Filipino family. This disorder typically app...rench family with a disease called spinocerebellar ataxia
type 13, which causes childhood-onset ataxia, cerebellar degeneration, and mild mental retardation. ...
Heal thyself: Systems biology model reveals how cells avoid becoming cancerous
...NA damage caused by ultraviolet light is disabled, ataxia
telangiectasia, a progressive, neurodegenerative childhood disease, Werner syndrome, a premature aging disorder, and others. "DNA damage is a basic physiological process that is important to coping with environmental toxins and a number of congenita...
Scientists develop a new diagnostic approach for carriers of recessive genetic disorders
...om carriers of a closely related syndrome known as ataxia
telangiectasia. Therefore, these 16 predictive genes can be used to develop clinical tests to identify carriers of NBS. Similar approaches can be extended for developing diagnostic tests for carriers of other recessive genetic disorders. Even tho...
Witonsky honored with Pfizer award for work with EPM disease in horses
... neurologic problems including behavioral changes, ataxia
or clumsiness, muscle atrophy, and death. Over the past several years, diagnostic tests, treatments and vaccinations for EPM have been developed and Witonsky is attempting to improve upon those. Specifically, Witonsky hopes to achieve three goals ...
Ghost protein leaves fresh tracks in the cell
...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 about how these mutations affect specific functions of the molecule," he said....
Malaria drug may treat metabolic syndrome's many symptoms
...that people with the rare genetic condition called ataxia
telangiectasia exhibit signs of insulin resistance. The disease is caused by ATM (Ataxia Telangiectasia Mutated), and those with one copy of the mutant gene are also at greater risk of vascular disease. In the current study, the researchers set out ...
U of MN researchers link early brain development to adult-onset neurodegenerative disease
...researchers used a mouse model for spinocerebellar ataxia
type 1 (SCA 1), a fatal neurodegenerative disease that is associated with the loss of coordination that affects activities such as walking, speaking and swallowing. There is no treatment for this disease, and patients typically die 10-15 years after ...
News tips from the Journal of Neuroscience
...st mice to die at birth. The 20% that survived had ataxia
and reduced body weight. In the double knock-outs, whole-cell recording of hippocampal neurons revealed lowered synaptic strength, a twofold decrease in the frequency of miniature EPSCs, and enhanced paired-pulse facilitation, indicative of a presyna...
Mutant gene shatters nerves
... may provide a new explanation for spinocerebellar ataxia
type 5 (SCA5) ? a disease previously tied to a hum...four chance the 16th president had spinocerebellar ataxia
type 5. They cited a journalist's 1861 description of the tall, lanky Lincoln's "shambling, loose, i...