by Bradley Gillespie, PharmD
Dr. Maria T. Bonatil of the Human Molecular Genetics Unit, Department of Neuroscience, Dibit‐San Raffaele Scientific Institute in Milan, Italy, and her colleagues published an article in the journal Brain describing the way that Restless Legs (RLS) affects families. They determined that this genetic mutation is inherited in an autosomal dominant inheritance pattern, meaning that you can get RLS from either parent, with no need for both to have it in order to pass it on.
In this publication, the investigators were able to positively locate an imperfection on a specific chromosome associated with periodic leg movements in sleep (PLMS) and RLS in a 30-member, three-generation Italian family. They note that this is the second genetic mutation identified, to date, that has been linked to RLS.
The authors conclude that in addition to an important genetic contribution to RLS, additional modifier genes may be in play, accounting for the different clinical presentations observed within families. These additional influences may also impact other pieces of the presentation, to include: age of onset; severity of the symptoms; and the degree of motor involvement.
In their work, an extensive clinical evaluation of each affected family member allowed for the obtainment of a definitive diagnosis in each case. This work allowed the investigators to determine that the presentation of symptoms varied widely between family members, despite the fact that the genetic mutation was the same in everyone. Additionally, it should be noted that there were some family members that could be classified as carriers of the mutation, without expressing any symptoms of Restless Legs (RLS) or PLMS. Such people would be capable of passing the disease on to their offspring, even if they do not show symptoms of the syndrome.
These findings show that although RLS is known to be passed down within families, the extent of involvement is difficult to predict, and the resultant symptoms can range from absent to debilitating. If symptoms of RLS do exist, Calm Legs may be a great treatment choice to help manage a more healthy lifestyle.
Restless Legs sufferer Bradley Gillespie, PharmD, trained as a clinical pharmacist and has practiced in an industrial setting for the past 20-plus years. Currently, he supports efforts at the National Institutes of Health to develop therapeutics for rare and neglected diseases. He remains a registered pharmacist and operates a medical writing business.
Maria, North Carolina