Previous work has suggested that in many neurological diseases genetic variabi lity in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population...Previous work has suggested that in many neurological diseases genetic variabi lity in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population-based sample of dyst onia cases, we show an association with the torsin A haplotype and sporadic idio pathic dystonia.展开更多
Restless Legs Syndrome is characterized by the irresistible, often indescribable unpleasant urge to move the limbs while resting. It has an estimated prevalence of ～ 29.3 % in US private practice. Restless Legs Syndr...Restless Legs Syndrome is characterized by the irresistible, often indescribable unpleasant urge to move the limbs while resting. It has an estimated prevalence of ～ 29.3 % in US private practice. Restless Legs Syndrome often has a familial component; whether the familial and non- familial forms differ in terms of clinical features has previously been investigated, with the only significant factor emerging as younger age at onset in familial cases. Our study further explores a possible underlying difference between familial and sporadic forms of RLS by comparing familial RLS with sporadic RLS in terms of demographic and clinical features including subject gender, age of onset, and severity measures based an the IRLSSG severity scale. Both gender and family history are significant predictors of onset age in an overall model and also significant when analyzed independently. Participants who reported more severe RLS symptoms were significantly younger in age and progressed more rapidly. Two variables from the IRLSSG severity scale were significantly associated with age of onset when tested independently: discomfort and the urge to move the limb for relief. Our analysis supports the prevailing hypothesis that RLS is divided into earlier onset disease with a clear genetic component and later onset disease wich unclear etiology, and that one or more endophenotypes might exist within the disorder which could further characterize these subjects for future genetic studies.展开更多
文摘Previous work has suggested that in many neurological diseases genetic variabi lity in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population-based sample of dyst onia cases, we show an association with the torsin A haplotype and sporadic idio pathic dystonia.
文摘Restless Legs Syndrome is characterized by the irresistible, often indescribable unpleasant urge to move the limbs while resting. It has an estimated prevalence of ～ 29.3 % in US private practice. Restless Legs Syndrome often has a familial component; whether the familial and non- familial forms differ in terms of clinical features has previously been investigated, with the only significant factor emerging as younger age at onset in familial cases. Our study further explores a possible underlying difference between familial and sporadic forms of RLS by comparing familial RLS with sporadic RLS in terms of demographic and clinical features including subject gender, age of onset, and severity measures based an the IRLSSG severity scale. Both gender and family history are significant predictors of onset age in an overall model and also significant when analyzed independently. Participants who reported more severe RLS symptoms were significantly younger in age and progressed more rapidly. Two variables from the IRLSSG severity scale were significantly associated with age of onset when tested independently: discomfort and the urge to move the limb for relief. Our analysis supports the prevailing hypothesis that RLS is divided into earlier onset disease with a clear genetic component and later onset disease wich unclear etiology, and that one or more endophenotypes might exist within the disorder which could further characterize these subjects for future genetic studies.
