A family with earlier onset spinocerebellar ataxia 6 in China

Abstract

Objective To investigate the real type of the first earlier onset spinocerebellar ataxia family in China. Methods Two family members were subjected to autopsy, whose genetypings were confirmed by polymerase chain reaction (PCR) and direct sequencing technique. Golgi staining, immunohistochemistry and electron microscopy methods were used to detect the neurodegeneration in central nervous system of 2 patients. Results The light microscopic and electron microscopic showed synaptic degeneration of Purkinje cell in the cerebellar cortex, which was accompanied by deterioration of Purkinje cell, and both inferior olivary complex, dentate nucleus and anterior central gyrus. Conclusions There is severer neurodegeneration in the central nervous system of earlier onset spiuocerebellar ataxia 6 patient, especially in cerebellar cortex, inferior olivary complex and dentate nucleus, and the neurodegeneration may depend on disease duration. Key words: Spinocerebellar ataxias;  Pedigree;  Purkinje cells;  Cerebellar nuclei