Fragile X disorders include two distinct conditions: fragile X syndrome (the most common single-gene cause of developmental ...

Antonella Favit-Van Pelt, MD, PhD, discusses the use of neuromodulation and neuroplasticity for addressing gait deficits in patients with multiple sclerosis.

Biogen launches Phase 3 BRAVE study to assess omaveloxolone's effects in children with Friedreich ataxia. Quiver AI Summary Biogen Inc. has launched the BRAVE study, a global Phase 3 clinical ...

Michael Gehr, of Edmond, and his family are on a mission to help find a cure for a rare genetic disease that he was diagnosed ...

Recessive mutations in POLR3A exhibit considerable phenotypic diversity, spanning from severe childhood-onset hypomyelinating leukodystrophic syndrome to less severe gait disorders, which may present ...

A new COVID variant - NB 1.8.1 - is creeping across the country; here are the symptoms to watch for, and vaccinations you'll need to take.

A new COVID variant known as NB.1.8.1 has made landfall in the United States. The variant, which was first detected in China this past January, currently accounts for 10% of the SARS-CoV-2 ...

Human observer-based assessments of Cerebellar Ataxia (CA) are subjective and are often inadequate to track mild motor symptoms. This study examines the potential use of a comprehensive sensor-based ...

Friedreich ataxia (FRDA) is the most common type of inherited ataxia. It is a neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, areflexia, and reduced ...

Based on that, sporadic ataxia is defined as a neurological condition characterized by ataxia of adult onset, usually over 40 years old, with family history negative for ataxia or its related symptoms ...

Education of patients and families regarding symptoms of concern and prompt reporting remains important, as is regular physical examination. Blood-based biomarkers with suggested clinical utility ...

Results The patient presented with exercise-induced paroxysmal gait ataxia and areflexia as an atypical phenotype associated with a novel homozygous DARS2 mutation. These features showed an excellent ...