Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.

We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested that this disease entity may account for a large number of patients with sporadic idiopathic ataxia. We have therefore investigated the prevalence of gluten sensitivity amongst a large cohort of patients with sporadic and familial ataxia and looked at possible genetic pr...

OBJECTIVES To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti balance and gait assessment and the functional independence measure. The scale for the assessment and rating of ataxia and the international cooperative ataxia rating scale were ...

Wernicke’s encephalopathy (WE) is an acute neurological disorder caused by a deficiency in thiamine. It characterized triad of altered mental status, ataxia and ophthalmoplegia. Most the cases reported were secondary to long-term alcohol use. We rare case WE due hyperemesis gravidarum 29-year-old P1L1A1 women at 22 weeks gestation who had spontaneous abortion. Patient manifested with features c...

BACKGROUND The most common neurologic manifestation of gluten sensitivity is ataxia, which accounts for up to 40% of idiopathic sporadic ataxia. Timing of diagnosis of gluten ataxia is vital as it is one of the very few treatable causes of sporadic ataxia and causes irreversible loss of Purkinje cells. Antigliadin antibody (AGA) of the IgG type is the best marker for neurological manifestations...

introduction: loss of inhibitory output from purkinje cells leads to hyperexcitability of the deep cerebellar nuclei (dcn), which results in cerebellar ataxia. also, inhibition of small-conductancecalcium-activated potassium (sk) channel increases firing rate  f dcn, which could cause cerebellar ataxia. therefore, sk channel activators can be effective in reducing the symptoms of this disease, ...