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 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.