Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. Upper limb involvement and torticollis commonly occurs. There is no cognitive impairment (Wang et al., 2010).
Wang et al. (2010) reported a 4-generation Chinese family in which 9 individuals developed spinocerebellar ataxia with a mean age at onset of 43.9 years (range, 40 to 48 years). Early features included walking difficulty, ataxia, and cerebellar ... Wang et al. (2010) reported a 4-generation Chinese family in which 9 individuals developed spinocerebellar ataxia with a mean age at onset of 43.9 years (range, 40 to 48 years). Early features included walking difficulty, ataxia, and cerebellar dysarthria, while upper limb involvement with incoordination occurred later. There was slow progression, and most needed a walking aid or became wheelchair-dependent after about 10 years. Additional features included tremor, hyperreflexia, extensor plantar responses, torticollis, ocular dysmetria, and position sense defects. None of the patients had nystagmus, ophthalmoplegia, peripheral neuropathy, or cognitive decline. Two sisters from a second unrelated Chinese family had a similar disorder. Li et al. (2013) reported a 3-generation Chinese family in which 7 individuals had spinocerebellar ataxia. The proband was a 53-year-old woman who reported unsteady gait and frequent falls since her early teenage years. As an adult, she showed cerebellar ataxia with intention tremor and dysmetria, and pyramidal signs with hyperreflexia and extensor plantar responses. She used crutches for walking. Her deceased father was apparently affected, and she had 2 similarly affected sisters, one of whom was wheelchair-bound. Her son, who was also affected, had mild mental retardation with delayed speech. The disorder was slowly progressive.
By exome sequencing of affected members of a large Chinese family with SCA35, Wang et al. (2010) identified a heterozygous mutation in the TGM6 gene (L517W; 613900.0001). A second unrelated Chinese family with SCA35 was found to carry ... By exome sequencing of affected members of a large Chinese family with SCA35, Wang et al. (2010) identified a heterozygous mutation in the TGM6 gene (L517W; 613900.0001). A second unrelated Chinese family with SCA35 was found to carry a different heterozygous mutation in the TGM6 gene (D327G; 613900.0002). By exome sequencing, Li et al. (2013) identified a heterozygous mutation in the TGM6 gene (D510H; 613900.0003) in affected members of a Chinese family with SCA35.