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 10 was a 19-year-old Caucasian male with a premutation of 170 CGG repeats. His behavior included hand flapping at times when he was excited and jumping up and down. When he was 6 years old, he showed excessive laughing, significant ADHD, and aggression. He had some paranoid thinking about people making fun of him or staring at him, which continued to impair his social behavior. He was given the Kiddie-SADS and he met criteria for ADHD and generalized anxiety disorder, as well as autism. He showed some OCD symptoms with a sexual fetish. He also met criteria for autism on the ADOS Module 4 on the current assessment. His full scale IQ of 54 fell in a mildly delayed range.