BACKGROUND Sera from children with post-varicella infections have autoantibodies that react with centrosomes in brain and tissue culture cells. We investigated the sera of children with infections and post-varicella ataxia and related conditions for reactivity to five recombinant centrosome proteins: gammagamma-enolase, pericentrin, ninein, PCM-1, and Mob1. METHODS Sera from 12 patients with ...

BACKGROUND AND PURPOSE There is a scarcity of information on the effect of white matter degeneration in patients with spinocerebellar ataxia type 7. Therefore, we investigated the WM integrity in a large group of patients with spinocerebellar ataxia type 7 by using Tract-Based Spatial Statistics. MATERIALS AND METHODS Thirty-three patients with a molecular diagnosis of spinocerebellar ataxia ...

The nosology and aetiology of sporadic adult-onset ataxia are poorly understood. The aim of the present study was to answer the following questions: (i) How many sporadic ataxia patients have a genetic cause? (ii) How many sporadic ataxia patients suffer from multiple system atrophy (MSA)? (iii) Is there a specific association between sporadic ataxia and serum anti-glutamic acid decarboxylase (...

Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene. It is almost indistinguishable clinically from Friedreich's ataxia but with appropriate treatment its devastating neurological features can be prevented. Patients can present with a progressive cerebellar ataxia, pyramidal spasticit...

Introduction: Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the most common one of the genetically inherited ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, with an expansion of a GAA trinucleotide. Ataxia with vitamin E deficiency (AVED) is characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich...

La Ataxia-Telangiectasia (AT) es una rara enfermedad de herencia autosómica recesiva y afección multisistémica, caracterizada por ataxia progresiva, inmunodeficiencia variable con infecciones recurrentes, riesgo incrementado neoplasias o sin telangiectasias óculo-cutáneas. AT causada variantes patogénicas bialélicas en el gen ATM. Su diagnóstico se basa la sospecha un cuadro clínico compatible,...

OBJECTIVE To assess the frequency and clinical features of different types of hereditary spinocerebellar ataxia in Hong Kong. DESIGN Cross-sectional study using a questionnaire and clinical examination, with the majority of the information retrospectively collected. SETTING Three regional hospitals, Hong Kong. PARTICIPANTS All patients with spinocerebellar ataxia that was confirmed by mol...

BACKGROUND Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Som...

OBJECTIVE To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes. DESIGN Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal signs, dementia, or pe...

A 5 year old female child from a well-monitored, full term pregnancy with no specific history of ataxia, hypotonia and global developmental delay.