Case 2 was a 53-year-old Caucasian male who had unmethylated alleles spanning from 180 to 690 CGG repeats. He had ADHD symptoms and significant impulsivity in childhood and after graduation from high school he began work as a carpenter. He developed severe hypertension at age 30 requiring antihypertensive medication. He developed an intermittent hand tremor that was noticeable when using tools or a pencil at age 49. He subsequently developed a tremor in his leg that feels as if a cell phone was vibrating in his pocket when there was none there. He experiences light-headedness and sometimes dizzy spells. On several occasions bright lights had flashed across his visual field although he did not have a history of migraines.\nOn his medical examination he had absent reflexes in all four extremities, a positive snout reflex, but no tremor nor ataxia were observed. The SCID revealed a diagnosis of Bipolar Disorder not otherwise specified (NOS) with the most current episode depressed, a history of heavy substance abuse (methamphetamine, alcohol, and stimulants), specific phobia, and a self-reported previous diagnosis ADHD with impulsivity. His MRI did not demonstrate the middle cerebellar peduncle sign which would be typical of FXTAS criteria.
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.