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 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.