Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features.
- Exosome component 3 (EXOSC3)
- Hereditary spastic paraplegia (HSP)
- Pontocerebellar hypoplasia type 1 (PCH1)
- Spinocerebellar ataxia type 36 (SCA36)
- Whole exome sequencing (WES)
ASJC Scopus subject areas
- Cellular and Molecular Neuroscience