![]() ![]() Poorer phonemic fluency and object naming, along with autism and personality traits, are more frequent in relatives of people with amyotrophic lateral sclerosis. These effects were typically larger in relatives of people with familial, rather than sporadic, amyotrophic lateral sclerosis and were present in both gene carrier and non-carrier relatives of probands with a C9orf72 repeat expansion. Relatives also had higher autism quotient attention to detail traits ( d = −0.52, P = 0.005), lower conscientiousness ( d = 0.57, P = 0.003) and lower openness to experience personality traits ( d = 0.54, P = 0.01) than controls. Relatives of people with amyotrophic lateral sclerosis had lower scores on executive functioning, language and memory tasks compared to controls, with large effect sizes observed on object naming ( d = 0.91, P = 0.00001) and phonemic verbal fluency ( d = 0.81, P = 0.0003). ![]() Subgroup analyses examined the effect of family history and C9orf72 repeat expansion status ( n = 16 positive carriers). ![]() In a family-based, cross-sectional study design, first- and second-degree relatives of people with amyotrophic lateral sclerosis ( n = 149) were compared to controls ( n = 60) using an in-depth neuropsychological and neuropsychiatric assessment. We have directly investigated cognitive functioning and neuropsychiatric traits among relatives of people with amyotrophic lateral sclerosis to identify potential endophenotypes of the disease. Such phenotypes may constitute a disease endophenotype that associates with disease liability. First- and second-degree relatives of people with amyotrophic lateral sclerosis report higher rates of neuropsychiatric disorders, indicating that risk genes may be pleiotropic, causing multiple phenotypes within kindreds. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |