Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2

2006 ◽  
Vol 21 (10) ◽  
pp. 1751-1754 ◽  
Author(s):  
Sylvia M. Boesch ◽  
Birgit Frauscher ◽  
Elisabeth Brandauer ◽  
Gregor K. Wenning ◽  
Birgit Högl ◽  
...  
Keyword(s):  
Eye Movement ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Rapid Eye Movement ◽  
Rapid Eye Movement Sleep ◽  
Spinocerebellar Ataxia Type 2

Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers

2010 ◽  
Vol 26 (2) ◽  
pp. 347-350 ◽  
Author(s):  
Roberto Rodríguez-Labrada ◽  
Luis Velázquez-Perez ◽  
Nalia Canales Ochoa ◽  
Lourdes Galicia Polo ◽  
Reyes Haro Valencia ◽  
...  
Keyword(s):  
Eye Movement ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Rapid Eye Movement ◽  
Rapid Eye Movement Sleep ◽  
Spinocerebellar Ataxia Type 2 ◽  
Gene Carriers ◽  
Sleep Abnormalities

scholarly journals Protocolo de procesamiento de electrooculogramas para la evaluación y el seguimiento de pacientes con Ataxia Espinocerebelosa tipo 2

2017 ◽  
Vol 1 (2) ◽  
pp. 1
Author(s):  
Roberto A. Becerra García ◽  
Gonzalo Joya Caparros ◽  
Luis Velázquez Pérez
Keyword(s):  
Eye Movements ◽  
Eye Movement ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Hereditary Ataxias

The analysis of eye movements is an useful tool to evaluate various neurological disfunctions, among them is the Spinocerebellar Ataxia Type 2 (SCA2). This work is about the process of design a protocol for the the processing of eye movement records carried out at the Centre of Research and Rehabilitation of Hereditary Ataxias (CIRAH, spanish accronym) of Holguin city, Cuba. To accomplish this task, the process of processing was separated in four stages: filtering, differentiation, annotation and calculation of features; choosing at every stage the fundamentals methods and tools used frequently to solve each of yielded problems.El análisis de los movimientos oculares constituye una herramienta útil para el estudio de una gran variedad de disfunciones neurológicas entre las que se encuentra la Ataxia Espinocerebelosa Tipo 2 (SCA2, en inglés Spinocerebellar Ataxia Type 2 ). Este trabajo aborda el proceso de diseño de un protocolo para el procesamiento de los registros de movimientos oculares que se realizan en el Centro de Investigación y Rehabilitación de Ataxias Hereditarias (CIRAH) de la ciudad de Holguín. Para lograr esta tarea se separa el proceso de procesamiento en cuatro etapas fundamentales: filtrado, diferenciación, etiquetado y cálculo de características; seleccionándose para cada una de las etapas los principales métodos y herramientas empleados comúnmente en éstas.

scholarly journals Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

2016 ◽  
Vol 16 (1) ◽  
pp. 180-183 ◽  
Author(s):  
Adele G. Marthaler ◽  
Benjamin Schmid ◽  
Alisa Tubsuwan ◽  
Ulla B. Poulsen ◽  
Alexander F. Engelbrecht ◽  
...  
Keyword(s):  
Cell Line ◽  
Spinocerebellar Ataxia ◽  
Control Cell ◽  
Spinocerebellar Ataxia Type ◽  
Ipsc Line ◽  
Spinocerebellar Ataxia Type 2 ◽  
Control Cell Line

Spinocerebellar Ataxia Type 2 in a Turkish Family

2007 ◽  
Vol 22 (7) ◽  
pp. 891-894 ◽  
Author(s):  
Eray Dirik ◽  
Uluc Yis ◽  
Nazli Basak ◽  
Esra Soydan ◽  
Orkide Hüdaoğlu ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Turkish Family

Normal SCA2 alleles influences age at onset of spinocerebellar ataxia type 2 in Cuban patients

2008 ◽  
Vol 119 ◽  
pp. S173
Author(s):  
L.E. Almaguer Mederos ◽  
N. Falcón ◽  
Y. Almira ◽  
Y. Zaldivar ◽  
D. Almarales ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2

scholarly journals A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

2020 ◽  
Vol 43 (3) ◽  
Author(s):  
José Sánchez-Corona ◽  
Sergio Alberto Ramirez-Garcia ◽  
Gema Castañeda-Cisneros ◽  
Susan Andrea Gutiérrez-Rubio ◽  
Víctor Volpini ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Report ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Repeat Expansion ◽  
Mexican Child

scholarly journals Genetic Rhabdomyolysis within the Spectrum of the Spinocerebellar Ataxia Type 2 Responsive to Pregabalin

2021 ◽  
Author(s):  
Fabian Rossi ◽  
Joe Ma ◽  
Nina Tsakadze ◽  
Lourdes Benes-Lima ◽  
Julio Araque Gonzalez ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Clinical Presentation ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset ◽  
Spinocerebellar Ataxia Type 2 ◽  
First Report ◽  
Recurrent Rhabdomyolysis

Abstract BackgroundSpinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. Case presentationWe describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin. ConclusionThis is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin.

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