RIT2 gene’s promise in halting Parkinson’s disease progression

Researchers identified a protein that could play a significant role in preventing Parkinson’s disease. The protein, linked to the RIT2 gene, is believed to control the accumulation of alpha-synuclein, which destroys neuronal cells and is a known indicator of the disease. Experiments on cell models and mice demonstrated that increasing the expression of the RIT2 gene can protect neurons from the damaging accumulation of alpha-synuclein. Click here to learn more.

Short-read genome sequencing test may help diagnose atypical FA

Short-read genome sequencing (SR-GS), a test that can identify difficult-to-detect mutations, may help to correctly diagnose atypical Friedreich’s ataxia (FA) in people whose symptoms and family history are not indicative of FA, according to a recent study published in the Journal of Neurology.

The most common FA-causing genetic mutation is a repeat expansion in which three nucleotides (the building blocks of DNA) are repeated an excessive number of times.

In normal circumstances, the FXN gene contains a region — called a short tandem repeat (STR) — where the GAA sequence is repeated about 5 to 33 times. In most FA cases, however, the STR region is mutated and contains a much higher number of GAA repeats — ranging from 66 to more than 1,000 repeats — in both gene copies. Click here to learn more.

Full Phase 3 trial data: Valbenazine eases chorea in Huntington’s

The oral therapy valbenazine significantly reduces involuntary muscle contractions, or chorea, and patient-reported disease burden in people with Huntington’s disease, according to results from the Phase 3 KINECT-HD clinical trial.

Top-line data were announced by Neurocrine Biosciences, the therapy’s manufacturer, in 2021. The full findings have been published in this month's issue of The Lancet Neurology.

The findings form the basis of Neurocrine’s application before the U.S. Food and Drug Administration for valbenazine to treat Huntington’s-associated chorea. Click here to learn more.

Researchers invent rapid saliva test that can provide early detection for Parkinson’s

Researchers from Ottawa’s Carleton University have developed a rapid, saliva-based test that can reliably detect signs of Alzheimer’s and Parkinson’s early on in the diseases’ development. The team’s palm-sized, 3D-printed device could represent the first clinical test capable of catching the difficult-to-diagnose diseases early. The team expects their creation to hit clinical trials in “no less than one year.”

The device uses disposable, single-use sensors to analyze saliva. The biosensors are assembled using a combination material printer capable of extruding various polymers and nanomaterials. Click here to learn more.

Weighted blanket therapy for periodic limb movement disorder

Periodic leg movement syndrome (PLMS) is a sleep disorder that can disturb sleep and lead to excessive daytime sleepiness. It is characterized by recurrent, unconscious leg movements such as repetitive jerking, cramping, or twitching of the lower limbs during sleep.

Effective treatment options for PLMS have included medications as well as lifestyle changes such as reducing caffeine and alcohol intake, better sleep hygiene, deep breathing exercises, meditation or yoga, and incorporating more iron into the diet.

In the current issue of Cureus Journal of Medical Science, researchers present a case of a 20-year-old female patient whose PLMS was managed with weighted blankets. The case report highlights the potential effectiveness of non-pharmacological interventions in managing PLMS and emphasizes the need for a multidisciplinary approach to improve patient outcomes and quality of life. Click here to learn more.