Case 13 was a 27-year-old Caucasian male with FXS mosaicism with 40% of his cells carrying the premutation of 104 CGG repeats, and the rest with a full mutation with partial methylation. His IQ at age 25 on the Stanford Binet showed a verbal IQ of 63, nonverbal of 60, and full scale IQ of 60. In his childhood he was anxious and socially awkward and he did well with atypical antipsychotics including aripiprazole and risperidone in addition to sertraline and topiramate. At age 24 he developed an oral motor dystonia with spasms of his tongue which made his speech unintelligible. He also developed a neck twisting movement. His risperidone was tapered without improvement of his symptoms and he was treated with a variety of medications including carbidopa/levodopa, and lamotrigine without effect, but he later improved with clonazepam and guanfacine.
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.