Cardiac involvement is common in Friedreich's Ataxia and is a common cause of premature death. Evidence regarding treatment of congestive heart failure in patients with Friedreich's Ataxia is lacking. The case of a 31-year-old male with advanced Friedreich's Ataxia who presented with an acute diarrhoeal illness and features of acute heart failure is discussed. We then review the reported cardia...

Ocular flutter is an eye movement disorder characterized by purely horizontal rapid saccadic oscillations lasting for a few minutes which stops spontaneously. Postinfectious ocular flutter and truncal ataxia are a rare entity. There are reported cases of opsoclonus myoclonus ataxia in association with dengue virus infection. However, there are no reported cases of parainfectious ocular flutter ...

What representational state mediates between perception and action? Bence Nanay says pragmatic representations, which are outputs of perceptual systems. This commits him to the view that optic ataxics face difficulty in performing visually guided arm movements because relevant systems output their representations incorrectly. Here, I argue it is not enough say incorrectly; we also need know why...

A 50-year-old man presented with 9-years history of pro gressive ataxia. His father had undiagnosed ataxia. Exa mi nation showed ataxia and pyramidal signs. Brain MRI: olivopontocerebellar atrophy; spine MRI: global spinal cord atrophy (Figure). Genetic test confirmed spinocerebellar ataxia type-1 (SCA1). SCA1 is characterized by cerebellar ataxia with va riable degrees of ophthalmoplegia, pyra...

Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...

We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...

BACKGROUND Multiple episodic ataxia phenotypes and genotypes have been described. OBJECTIVE To describe a new episodic ataxia syndrome. DESIGN Genomewide linkage analysis with dense single nucleotide polymorphism arrays. SETTING University clinic. Patients Family with lifelong episodes of ataxia and normal interictal examination results. RESULTS Suggestive linkage (logarithm of odds sco...

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to th...

Friedreich ataxia, although rare, is the most prevalent inherited ataxia. Recent insight into the disease pathogenesis is creating new hope for effective therapies. The purposes of this update are: (1) to review the etiology, presentation, and progression of Friedreich ataxia and (2) to describe a comprehensive physical therapist examination emphasizing valid and reliable performance measuremen...

BACKGROUND Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%-50% of all patients with typical episodic ataxia type 2 phenotype have no detectable mutation of the CACNA...