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.

This scientific commentary refers to ‘Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia’, by Rebelo et al. (doi: 10.1093/brain/awab071).

introduction: purkinje cell (pc) output displays a complex firing pattern consisting of high frequency sodium spikes and low frequency calcium spikes, and disruption in this firing behavior may contribute to cerebellar ataxia. riluzole, neuroprotective agent, has been demonstrated to have neuroprotective effects in cerebellar ataxia. here, the spectral analysis of pcs firing in control, 3-acety...

Abstract Background Cogan’s anterior internuclear ophthalmoplegia (INO) is characterized by INO with inability to converge and commonly thought be due rostral midbrain lesion. A lesion outside that causes unilateral combined upgaze palsy ataxia are rarely described. Case presentation 67-year old male presented left (INO), appendicular bilateral palsy. Magnetic Resonance Imaging (MRI) Angiograph...

T he cerebellar ataxias are a heterogeneous group of neurodegenerative disorders, characterised by symptoms and signs of cerebellar degeneration, pyramidal and extrapyramidal features, and variable polyneuropathy. Prominent clinical features are signs of cerebellar ataxia, such as uncoordinated gait and uncontrolled co-ordination of hand, speech, and eye movements, while (extra) pyramidal signs...