## Abstract Spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxiaโ6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patient
Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6
โ Scribed by Takao Hashimoto; Osamu Sasaki; Kunihiro Yoshida; Yo-ichi Takei; Shu-ichi Ikeda
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 389 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0885-3185
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โฆ Synopsis
Abstract
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gazeโevoked nystagmus. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene. The intrafamilial variability of oculomotor symptoms may be ascribed to factors other than CAG repeat expansion size in SCA6. ยฉ 2003 Movement Disorder Society
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## Abstract Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the nervous system and huge variability of
## Abstract The objective of this study was to investigate cerebellar metabolism in patients with autosomal dominant cerebellar ataxia type 1 (ADCAโI) carrying two distinct mutations of spinocerebellar ataxia (SCA). Nonโinvasive imageโguided proton magnetic resonance spectroscopy imaging (1HโMRSI)
Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the qA voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We