scholarly journals Segmentation of the Cerebellar Peduncles Using a Random Forest Classifier and a Multi-object Geometric Deformable Model: Application to Spinocerebellar Ataxia Type 6

2015 ◽  
Vol 13 (3) ◽  
pp. 367-381 ◽  
Author(s):  
Chuyang Ye ◽  
Zhen Yang ◽  
Sarah H. Ying ◽  
Jerry L. Prince
Keyword(s):  
Random Forest ◽  
Spinocerebellar Ataxia ◽  
Random Forest Classifier ◽  
Deformable Model ◽  
Spinocerebellar Ataxia Type ◽  
Model Application ◽  
Spinocerebellar Ataxia Type 6 ◽  
Geometric Deformable Model ◽  
Cerebellar Peduncles

Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6

Gene ◽  
2006 ◽  
Vol 380 (1) ◽  
pp. 54-61 ◽  
Author(s):  
Eva Andrés-Mateos ◽  
Jesús Cruces ◽  
Jaime Renart ◽  
Luisa M. Solís-Garrido ◽  
Rocío Serantes ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Spinocerebellar Ataxia ◽  
Cag Repeats ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Cacna1a Gene

scholarly journals Spinocerebellar ataxia type 6 in Brazil

2008 ◽  
Vol 66 (3b) ◽  
pp. 691-694 ◽  
Author(s):  
Hélio A.G. Teive ◽  
Renato Puppi Munhoz ◽  
Salmo Raskin ◽  
Lineu César Werneck
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Late Onset ◽  
Cag Repeat ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Voltage Dependent ◽  
Pure Cerebellar Ataxia ◽  
Japanese Ancestry

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 three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.

Spinocerebellar ataxia type 6: founder effect in Western Japan

2001 ◽  
Vol 185 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Masatada Mori ◽  
Yoshiki Adachi ◽  
Masayoshi Kusumi ◽  
Kenji Nakashima
Keyword(s):  
Spinocerebellar Ataxia ◽  
Founder Effect ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Western Japan

scholarly journals MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

2017 ◽  
Vol 9 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Fumihito Yoshii ◽  
Hitoshi Tomiyasu ◽  
Ryo Watanabe ◽  
Masafuchi Ryo
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Spinocerebellar Ataxia Type ◽  
Proton Density ◽  
Spinocerebellar Ataxias ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cerebellar Peduncles ◽  
Magnetic Resonance Imaging Mri ◽  
Inferior Olivary

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias.

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