General description

TMEM106B related hypomyelinating leukodystrophy, also known as hypomyelinating leukodystrophy 16 (HLD16), is an autosomal dominant genetic disorder caused by abnormalities in the TMEM106B gene, which encodes a type II transmembrane protein primarily localized in lysosomes. This protein has been implicated in the development of Frontotemporal lobar degeneration (FTLD) and is thought to play a role in lysosomal function, which is crucial for myelination.

Clinically, the disorder presents with symptoms from the neonatal or early infancy period, including congenital nystagmus (horizontal or pendular), generalized hypotonia, and delayed psychomotor development. Patients may also exhibit cerebellar symptoms such as ataxia and tremors, as well as involuntary movements like dystonia and choreoathetosis. In some cases, epilepsy is also observed. Despite these neurological manifestations, the condition is relatively mild, with many affected individuals able to walk independently.