Pearls c Eye movement abnormalities can be helpful with topical localization. c Vertical nystagmus (downbeat and upbeat nystagmus) is typically caused by posterior fossa lesions. Other causes include medication side effects, vitamin deficiencies, inflammatory and autoimmune/paraneoplastic conditions, and hereditary and degenerative cerebellar ataxias. c Lesions in the posterior fossa such as me...

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hype...

Sir, We read with interest the article by Delplanque et al. (2014) entitled: ‘TMEM240 mutations cause spinocerebellar ataxia type 21 with mental retardation and severe cognitive impairment’. The striking feature of the clinical presentation was not only the cerebellar ataxia and cerebellar volume loss on imaging, but also the cognitive and neurobehavioural impairments that were pervasive, and— ...

We present a 38-year-old woman with clinical presentation of ataxia, cognitive impairment, and secondary amenorrhea remarkable brain hyperintensities on magnetic resonance imaging (MRI). Clinical symptoms began at the age 20 years development amenorrhea, instability, dysfunction. Although this set medical primary/secondary due to hypogonadotropic hypogonadism, impairment are known as Gordon Hol...

Numerous studies have highlighted the possibility of modulating the excitability of cerebro-cerebellar circuits bi-directionally using transcranial electrical brain stimulation, in a manner akin to that observed using magnetic stimulation protocols. It has been proposed that cerebellar stimulation activates Purkinje cells in the cerebellar cortex, leading to inhibition of the dentate nucleus, w...