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 14 was a 34-year-old male with a premutation of 88 CGG repeats. He had a history of ADHD and a traumatic brain injury from jumping off a bed at 5 years old. He continued to have problems in school related to impulsivity, mood lability, ADHD and learning problems. In adolescence and adulthood he developed substance abuse problems including alcohol and cocaine. He spent time in rehabilitation before being evaluated at age 34. On the SCID, he met criteria for Bipolar Disorder I with the most recent episode manic, a history of Substance Abuse, and acute stress disorder. His Verbal IQ was 112, Performance IQ was 98, and full scale IQ was 107. He suffered from intermittent intention tremor that began in his late 20 s and long-term history of balance problems. He showed some autistic features. His MRI showed some white matter disease in the insula but no middle cerebellar peduncle sign. Because of his tremor and ataxia he had a possible diagnosis of FXTAS. After evaluation he subsequently began using alcohol again in addition to cocaine and methamphetamine. He developed paranoid ideation toward his mother and his father and threatened to kill them. He was subsequently shot and killed when he attacked someone without provocation.