Hereditary Cerebellar Ataxia

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hereditary ataxia

the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...

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Titubation in hereditary ataxia.

"AS THE DISEASE progresses some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea". This is how Gowers in 1899 described the occurrence of titubation in hereditary ataxy in his book on the diseases of the nervous system. But this feature of hereditary ataxia seems to have r...

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Acute cerebellar ataxia.

Acute cerebellar ataxia occurring in childhood is a definite clear-cut syndrome, yet only three cases appear to have been reported in the British literature (Batten, 1907; Taylor, 1913), although more recently cases with similar features have been included in wider surveys on encephalitis by Brewis (1954) and on ataxia by Shanks (1950). Typically the clinical picture is characterized by the sud...

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Top-Down but Not Bottom-Up Visual Scanning is Affected in Hereditary Pure Cerebellar Ataxia

The aim of this study was to clarify the nature of visual processing deficits caused by cerebellar disorders. We studied the performance of two types of visual search (top-down visual scanning and bottom-up visual scanning) in 18 patients with pure cerebellar types of spinocerebellar degeneration (SCA6: 11; SCA31: 7). The gaze fixation position was recorded with an eye-tracking device while the...

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The 3-Second Rule in Hereditary Pure Cerebellar Ataxia: A Synchronized Tapping Study

The '3-second rule' has been proposed based on miscellaneous observations that a time period of around 3 seconds constitutes the fundamental unit of time related to the neuro-cognitive machinery in normal humans. The aim of paper was to investigate the temporal processing in patients with spinocerebellar ataxia type 6 (SCA6) and SCA31, pure cerebellar types of spinocerebellar degeneration, usin...

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ژورنال

عنوان ژورنال: Proceedings of the Royal Society of Medicine

سال: 1933

ISSN: 0035-9157

DOI: 10.1177/003591573302600345