BACKGROUND Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. OBJECTIVE To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. PATI...

18. Stamnaes J, Dorum S, Fleckenstein B, Aeschlimann D, Sollid LM. Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia. Amino Acids. 2010;39:1183-1191. 19. Bushara KO, Shill H, Hallett M. Open label trial of gluten free diet in sporadic and hereditary cerebellar ataxia with gluten sensitivity. Mov Disord. 2002;17:S325. 20. Hadjivassiliou M...

BACKGROUND Hereditary coproporphyria (HCPO) is a low-penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and central nervous system dysfunction. Ataxia associated with HCPO has not been reported previously. The a...

BACKGROUND Although it is acknowledged that patients with celiac disease can develop neurological complications such as ataxia, the association of antigliadin antibodies in the etiology of sporadic ataxia and the usefulness of this testing in diagnosis of ataxia is controversial. METHODS We investigated this association by testing for the presence of IgG and IgA antigliadin antibodies in 56 a...

Background: Hereditary coproporphyria (HCPO) is a low-penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and central nervous system dysfunction. Ataxia associated with HCPO has not been reported previously. The ...

Introduction: Friedreich's Ataxia (FA) is a hereditary spinocerebellar degenerative disease, whose main features include ataxia, dysarthria and lower limb arreflexia. Cardiomyopathy is an important cause of mortality in these patients and usually a late finding. Case Report: We present a case of a young adult who underwent cardiac transplantation for cardiomyopathy of unknown cause in terminal ...

UNLABELLED The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom. In order to measure the severity of cerebellar ataxia in an easier and more practical way, it was proposed a new scale: the Scale for the Assessment and Rating of Ataxia (SARA). The objective of this study was to translate and v...

Background: Rare comprehensive epidemiological studies of ataxia have been undertaken worldwide. Objective: To estimate the prevalence of cerebellar ataxia and its subtypes in Al-Kharga District New Valley. Methods: This is a community based study carried out through three stages. Total populations 62,583 were screened door to door (every door) by three specialists of neurology. All suspected p...