spinocerebellar ataxia, autosomal recessive type 11
spinocerebellar ataxia, autosomal recessive type 11
A form (OMIM:614229) of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders, which is characterised by progressive loss of coordination of gait, hands, speech and eye movements, due to cerebellar degeneration; it is variably accompanied by brainstem and spinal cord involvement, and is associated with psychomotor retardation.Molecular pathology
Caused by defects of SYT14, which encodes synaptotagmin 14, a protein involved in Ca2+-independent membrane trafficking in synaptic transmission.