Multimodal neurophysiological study of SCA2 and SCA3 autosomal dominant hereditary spinocerebellar ataxias

Multimodal neurophysiological study of SCA2 and SCA3 autosomal dominant hereditary spinocerebellar ataxias

Background: The spinocerebellar ataxias (SCA) are a group of genetic neurodegenerative diseases, clinically and pathologically heterogeneous, characterized by slowly progressive cerebellar ataxia. Objective: To identify the neural pathways affected neurophysiologically, correlate the findings with t...

Full description

Bibliographic Details
Main Authors:	S. Álvarez-Paradelo, A. García, J. Infante, J. Berciano
Format:	Article
Language:	English
Published:	Elsevier España 2011-01-01
Series:	Neurología (English Edition)
Online Access:	http://www.sciencedirect.com/science/article/pii/S2173580811700323

Similar Items

Estudio neurofisiológico multimodal en las ataxias espinocerebelosas con herencia autosómica dominante de tipo SCA2 y SCA3
by: S. Álvarez-Paradelo, et al.
Published: (2011-04-01)

Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2)
by: Bianca Simone Zeigelboim, et al.
Published: (2011-10-01)

Spinocerebellar Ataxia 3 (SCA3) Patient with Peripheral Neuropathy
by: Siti Aminah Sobana, et al.
Published: (2022-03-01)

Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48)
by: Huan-Yun Chen, et al.
Published: (2021-09-01)

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros
by: Iscia Lopes-Cendesi, et al.
Published: (1997-09-01)

Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA
by: Chih-Chun Lin, et al.
Published: (2020-08-01)

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
by: Niharika Duggirala, et al.
Published: (2023-04-01)

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter:
by: Melanie A Knight, et al.
Published: (2003-07-01)

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).
by: Teresa Almeida, et al.
Published: (2009-01-01)

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)
by: Harvy Velasco, et al.
Published: (2018-03-01)

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.
by: Ivette Landrian, et al.
Published: (2017-01-01)

Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry.
by: Khalaf Bushara, et al.
Published: (2013-01-01)

Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias
by: M.H. Orozco-Gutiérrez, et al.
Published: (2017-09-01)

Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
by: Worth, P, et al.
Published: (1999)

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
by: Susanne K. Hansen, et al.
Published: (2016-05-01)

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
by: Susanne K. Hansen, et al.
Published: (2016-05-01)

Altered calcium signaling in Bergmann glia contributes to spinocerebellar ataxia type-1 in a mouse model of SCA1
by: Carmen Nanclares, et al.
Published: (2023-10-01)

Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population
by: Mohammed Faruq, et al.
Published: (2015-01-01)

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
by: Gülsah Aydin, et al.
Published: (2018-01-01)

On the identification of potential novel therapeutic targets for spinocerebellar ataxia type 1 (SCA1) neurodegenerative disease using EvoPPI3
by: Sousa André, et al.
Published: (2023-02-01)

DEVELOPMENT OF THE ACCURATE SPINOCEREBELLAR ATAXIA TYPE3 (SCA3) THERAPEUTICS USING EN-CAS12A NICKASE-BASED GENOME EDITING
by: Lee Wha Gwon, et al.
Published: (2023-10-01)

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A
by: Stefanie Nicole Hayer, et al.
Published: (2018-07-01)

Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7)
by: Junko Takahashi-Fujigasaki, et al.
Published: (2011-01-01)

Age-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar ataxia (SCA6) patients
by: Dominik Jäschke, et al.
Published: (2023-04-01)

Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population
by: Divya Goel, et al.
Published: (2019-12-01)

SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome
by: P Braga-Neto, et al.
Published: (2011-01-01)

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review
by: Jun Young Park, et al.
Published: (2020-08-01)

Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects.
by: Bertrand Perroud, et al.
Published: (2013-01-01)

Therapeutic use of cerebellar transcranial direct current stimulation (tDCS) in a Sardinian family affected by spinocerebellar ataxia 38 (SCA 38)
by: Angela Sanna, et al.
Published: (2023-01-01)

Simplified Model of PKCγ Signaling Dysregulation and Cytosol-to-Membrane Translocation Kinetics During Neurodegenerative Spinocerebellar Ataxia Type 14 (SCA14)
by: Naveed Aslam, et al.
Published: (2020-01-01)

Loss of Flocculus Purkinje Cell Firing Precision Leads to Impaired Gaze Stabilization in a Mouse Model of Spinocerebellar Ataxia Type 6 (SCA6)
by: Hui Ho Vanessa Chang, et al.
Published: (2022-09-01)

The Josephin domain (JD) containing proteins are predicted to bind to the same interactors: Implications for spinocerebellar ataxia type 3 (SCA3) studies using Drosophila melanogaster mutants
by: Rita Sousa e Silva, et al.
Published: (2023-03-01)

Case report: Short-term efficacy and changes in 18F-FDG-PET with acute multi-target stimulation in spinocerebellar ataxia type 3 (SCA3/MJD)
by: Zhiqiang Cui, et al.
Published: (2023-09-01)

Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study
by: Roderick P. P. W. M. Maas, et al.
Published: (2019-07-01)

Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model.
by: Austin Ferro, et al.
Published: (2017-01-01)

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
by: Lijia Huang, et al.
Published: (2022-03-01)

Correction to: Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study
by: Roderick P. P. W. M. Maas, et al.
Published: (2021-06-01)

MR Imaging of SCA3/MJD
by: Na Wan, et al.
Published: (2020-08-01)

Extensive White Matter Alterations and Its Correlations with Ataxia Severity in SCA 2 Patients.
by: Carlos R Hernandez-Castillo, et al.
Published: (2015-01-01)

A trial of topiramate for patients with hereditary spinocerebellar ataxia
by: Shiroh Miura, et al.
Published: (2023-02-01)