image Index Index

Journal of Neurology & Neurophysiology
has published an article entitled(Spinocerebellar Ataxia Type 6 (SCA6) Phenotype in a Patient with an Intermediate Mutation Range CACNA1A Allele) & referenced following source

 

Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6)

Author(s): Yabe I, Sasaki H, Takeichi N, Takei A, Hamada T, et al.

Abstract

To investigate the frequency of positioning nystagmus in degenerative ataxic disorders, we examined downbeat positioning nystagmus (DPN) in 25 patients with spinocerebellar ataxia type 6 (SCA6) and 58 patients with other types of degenerative ataxia. DPN was observed in 21 of the 25 patients with SCA6 (84 %) versus only 3 of the 58 patients (5.2 %) with other types of degenerative ataxia, including multiple system atrophy, SCA1, SCA2, SCA3/Machado-Joseph disease, and non-SCA6 late-onset pure cerebellar ataxia. Our findings indicated that DPN is a distinct part of the clinical presentation of SCA6, showing that vestibular cerebellum is more affected in SCA6 than other types of degenerative ataxia.

Referred From: https://www.ncbi.nlm.nih.gov/pubmed/12700909

Similar Articles

Molecular epidemiology of spinocerebellar ataxia type 6

Author(s): Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF

Spinocerebellar ataxia type 6

Author(s): Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, et al.

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms

Author(s): Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, et al.

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset

Author(s): Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, et al.

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

Author(s): Yabe I, Sasaki H, Matsuura T, Takada A, Wakisaka A, et al.

The cerebellum and cognition

Author(s): Globas C, Bösch S, Zühlke Ch, Daum I, Dichgans J, et al.

The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes

Author(s): Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, et al.

Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene

Author(s): Naik S, Pohl K, Malik M, Siddiqui A, Josifova D

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls

Author(s): Shizuka M, Watanabe M, Ikeda Y, Mizushima K, Okamoto K, et al.

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

Author(s): Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, et al.

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

Author(s): Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, et al.

Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population

Author(s): Ikeuchi T, Takano H, Koide R, Horikawa Y, Honma Y, et al.

Spinocerebellar ataxia type 6

Author(s): Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, et al.

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

Author(s): Takahashi H, Ishikawa K, Tsutsumi T, Fujigasaki H, Kawata A, et al.

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families

Author(s): Shimazaki H, Takiyama Y, Sakoe K, Amaike M, Nagaki H, et al.

Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient

Author(s): Mariotti C, Gellera C, Grisoli M, Mineri R, Castucci A, et al.

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13

Author(s): Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, et al.

Download PDF