OBJECTIVE Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ...

Abstract Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore frequency of abnormal Chinese patients with SCA3, compare demographic and clinical characteristics between SCA3 without each type movement, correlation severity ataxia. Methods Seventy-four were enrolled this cross-sectional study. Six types including impaired smo...

Friedrich’s ataxia (FRDA), a neurodevelopmental and progressive neurodegenerative disease, is the most common inherited form of ataxia. Omaveloxolone was approved by US Food Drugs Administration in early 2023, making it first treatment available to patients with FRDA. This approval made possible combining compelling cellular mechanism strong clinical evidence provided through MOXIe study, multi...

BACKGROUND Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was...

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...