Results 111 to 120 of about 15,463 (269)

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Brain Sciences
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features.
Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo, Vito Luigi Colona, Adele D’Amico, Enrico Bertini, Francesco Nicita   +8 more
doaj   +1 more source

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports, 2019
Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.
Arun Swaminathan
doaj   +1 more source

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2015
The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion ...
Marcus Vinicius Cristino de Albuquerque, José Luiz Pedroso, Pedro Braga Neto, Orlando Graziani Povoas Barsottini   +3 more
doaj   +1 more source

Dataset related to article"Progression of cerebellar atrophy in spinocerebellar ataxia type 2 gene carriers: A longitudinal MRI study in preclinical and early disease stages"

, 2021
Anna Nigri, Lorenzo Nanetti, Caterina Mariotti   +2 more
openalex   +1 more source

A Review of Spinocerebellar Ataxias in Taiwan

Acta Neurologica Taiwanica
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous.
Chia-Ju Lee, Chin-San Liu, Society for Neurological Rare Disorders-Taiwan   +2 more
doaj   +1 more source

Regional and age-dependent changes in ubiquitination in cellular and mouse models of Spinocerebellar ataxia type 3 [PDF]

, 2023
Haiyang Luo, Sokol V. Todi, Henry L. Paulson, Maria do Carmo Costa   +3 more
openalex   +1 more source

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. [PDF]

, 2008
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6.
Baliko L, Bauer P, Boesch S, Charles P, Coudert M, Depondt C, di Donato S, du Montcel ST, Döhlinger S, Dürr A, Fancellu R, FILLA, ALESSANDRO, Giunti P, Globas C, Infante J, Kang JS, Klockgether T., Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schmitz Hübsch T, Schöls L, Stephenson DA, Szymanski S, Timmann D, van de Warrenburg BP, Zdienicka E   +30 more
core  

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese

Arquivos de Neuro-Psiquiatria
Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: The steps of this study were
Fernanda Aparecida Maggi, Pedro Braga-Neto, Hsin Fen Chien, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Mariana Callil Voos, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +9 more
doaj   +1 more source

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral‐pallidoluysian atrophy, machado‐joseph disease, and spinocerebellar ataxia type 1 [PDF]

, 1997
Hideji Hashida, Jun Goto, Hiroshi Kurisaki, Hidehiro Mizusawa, Ichiro Kanazawa   +4 more
openalex   +1 more source