Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We describe a patient with slowly progressive spastic paraparesis, segmental dystonia, intellectual disability, behavioral problems, and evidence of permanent, incomplete myelination associated with progressive cerebellar atrophy. Whole exome sequencing revealed a novel E410K de novo heterozygous mutation in the TUBB4A gene.

Surgical resection of left atrial myxoma presenting with acute multiple hemorrhagic cerebral infarctions: a case report.

Brain ischemia resulting from left atrial myxoma embolization has been well documented. In contrast, the link between the development of intracerebral hemorrhage and myxoma in these patients has little coverage in the literature. The main theory describing this relationship stems from the fact that cardiac myxoma cells metastasize to the brain's vessels, causing destruction of the arterial wall with subsequent formation of fusiform aneurysm and further intracranial bleeding.