Although a number of studies showed that chromothripsis plays an essential role in cancer development, 1, 2, 4, 5 the precise genomic context of occurrence of this phenomenon is unknown. TP53 ...
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar ...
Please provide your email address to receive an email when new articles are posted on . Areas of the brain in those with stroke were analyzed for lesion activity and functional connectivity. In 54% of ...
If you have impaired muscle coordination or control, you might have a type of ataxia. This condition is rare, but it can make it difficult to maintain balance, speak, or move. “Ataxia” is the medical ...
Mixed Response in Interim Positron Emission Tomography/Computed Tomography Leads to Detection of a Gastrointestinal Stromal Tumor in a Patient With Mediastinal Diffuse Large B-Cell Lymphoma ...
An otherwise healthy 4-year-old boy was brought to hospital in late December after 3 days of nasal congestion and 2 days of fever, vomiting, malaise, ataxia and aphasia. The patient had a medical ...
A 75 year-old woman developed the acute onset of ataxia, diplopia and confusion. Multiple Brainstem and Cerebellar Infarctions: Diffusion-weighted MRIs. Note the bright signal indicating acute ...
Cerebellar ataxia results from dysfunction of the cerebellum, which is part of the brain that helps regulate and control movement and balance. People may experience changes in gait, speech, and eye ...
Friedreich’s ataxia is a rare genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech. It’s also known as spinocerebellar degeneration. “Ataxia” ...
The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on ...