When a variant of unknown significance turns up in a genetic test, a family study may help clarify whether the variant is more likely to be pathogenic or benign. The added value of a family study in a difficult case of hereditary spastic paraplegia type Read more
‘Motor Neuron Disease’ Articles
Motor neuron diseases encompass a wide spectrum of neurological disorders, but common to all is a period of diagnostic uncertainty early in the disease, based on clinical grounds alone. That uncertainty can have important consequences for patients, including psychological stress, expenses incurred from multiple clinical Read more
Quest Diagnostics teamed up with the New York Giants to educate people about ALS. Check out this short clip below from Giants.com, which features insights from Athena Diagnostics Medical Director for Neurology, Dr. Joseph Higgins. Did you find this article helpful?YesNoPlease waitThank you for your response.
Additional Resource Dr. Richard Bedlack shares his insights on ALS and genetic testing. The newest gene for amyotrophic lateral sclerosis is found in both familial and sporadic ALS patients, as well as in patients with frontotemporal dementia, and is now the most common genetic Read more
The past two years have seen a revolution in discovery of genes for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. Half a dozen new genes have been reported in this time, and several of them are likely to lead to major breakthroughs Read more