Case 11 was a 57-year-old Caucasian male with a premutation of 133 CGG repeats. He had a history of ADHD and being socially awkward in childhood which led to a diagnosis of Asperger’s syndrome. At age 46 he began to experience cognitive decline leading to job loss, then an intention tremor began at age 47 and ataxia at age 50. He also had high blood pressure, moodiness, irritability and seizures treated with Keppra. On physical examination he had a somewhat long face, high-arched palate and prominent ear pinna with ear cupping bilaterally. On finger-to-nose touching he had a significant intention tremor, in addition to a postural tremor and ataxia with an inability to tandem walk. His MRI was consistent with FXTAS.
Case 12 was a 24-year-old Caucasian male with premutation of 67 CGG repeats. His developmental milestones were partially delayed with sitting at 13½ months, crawling at 14 months, walking at 16 months, saying words at 1 year, and phrases at ~30 months. He had a history of ASD in addition to psychiatric diagnoses including bipolar disorder, Tourette syndrome or chronic tic disorder, and OCD. He had also had four psychiatric hospitalizations in 2004 and twice in 2006. His full scale IQ was of 110. At age 24 he developed significant catatonia and was treated with several sessions of electroconvulsive therapy (ECT) with a good response. He had not tolerated antipsychotic medication well and he was eventually treated with lithium and clonazepam.