Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature

The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in studied family. clinical manifestations included progressive spastic paraplegia lower extremities, mild ataxia, cognitive impairment, atrophy. After administering antispasmodic rehabilitation treatment, using oral drugs, botulinum toxin injection, baclofen pump, other systems our hospital, patients' extremity spasticity was significantly relieved. To knowledge, till date, this is first domestic report affecting a family, onset early childhood. Manifestations disease dyskinesia (in stages) Through systematic rehabilitation, daily life movement disorder improved. This case adds literature on summarizing features.