Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had the same de novo mutation in TUBB4A, which encodes tubulin β-4A. We investigated the mutation spectrum in a cohort of 42 patients and the relationship between genotype and phenotype.

Increased number of peripheral blood CD34+ cells in lithium-treated patients.

Eight adult patients with bipolar disorder were prospectively examined to find whether lithium carbonate increased their peripheral blood CD34+ haemopoietic stem cells. Following lithium therapy for 3-4 weeks their neutrophil counts increased by a mean of 88% (from 4625 +/- 1350 x 10(9)/l, mean +/- SD pretreatment, to a peak of 8300 +/- 3910 x 10(9)/l). Concommitantly, there was a significant increment in their CD34+ cells (from 0.