A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoencephalopathy that was originally identified by MRI pattern analysis, and it has thus far defied all attempts at identifying the causal mutation. Only 22 cases are published in the literature to date. We performed exome sequencing on five family trios, two family quartets, and three single probands, which revealed that all eleven H-ABC-diagnosed individuals carry the same de novo single-nucleotide TUBB4A mutation resulting in nonsynonymous change p.

Learning disabilities do not go away: 20- to 25-year study of cognition, academic achievement, and affective illness.

This study was undertaken to establish how the current level of cognitive and academic functioning in adults might correlate with the previous testing performed at a small private school in Dallas, Texas, that serves students with learning disabilities. Each of the 40 participants had been evaluated as students 20 to 25 years previously using the standard cognitive and achievement tests accepted in practice during the 1970s. Additionally, the medical director of the school, a neurologist, had evaluated each student for neurologic and behavioral disorders.

Juvenile Huntington disease exacerbated by methylphenidate: case report.

The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, intention tremor, motor impersistence, and diffusely increased tone. Symptoms persisted despite cessation of methylphenidate.