Results 61 to 70 of about 33,006 (235)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

Heliyon, 2021
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr.
Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad   +7 more
doaj   +1 more source

Cognitive dysfunction in spinocerebellar ataxias [PDF]

Dementia & Neuropsychologia, 2009
Abstract Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia ...
Teive, Helio Afonso Ghizoni, Arruda, Walter Oleschko   +1 more
openaire   +5 more sources

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings

Annals of Indian Academy of Neurology, 2013
Spinocerebellar ataxia 17 (SCA17) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cerebellar ataxia in combination with variable neurological symptoms.
Jin Zhang, Weihong Gu, Ying Hao, Yuanyuan Chen   +3 more
doaj   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

, 2009
The clinical effect of the GABAergic drug gabapentin was evaluated in 11 patients with spinocerebellar ataxia type 6 (SCA6). The total period of gabapentin treatment was 4 weeks, and outcome measures were determined with the International Cooperative ...
Katsuya Nakamura, Morita, Hiroshi, Ikeda, Shu-ichi, Kunihiro Yoshida, Hiroshi Morita, Nakamura, Katsuya, Yoshida, Kunihiro, Daigo Miyazaki, Shu-ichi Ikeda, Miyazaki, Daigo   +9 more
core   +1 more source

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes
Anjomani-Virmouni, S, Ezzatizadeh, V, Jassal Harvinder, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Harvinder Jassal, Pook Mark A., Mark A Pook, Jassal, H   +20 more
core   +1 more source

Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7

, 2021
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disease caused by a cytosine-adenine-guanine (CAG) repeat expansion.
Adanyeguh, I., Hernandez-Castillo, C.R., Mochel, F., Harding, I.H., Fernandez-Ruiz, J., Diaz, R., Rezende, T.J.R.   +6 more
core   +1 more source

Approaches to the treatment of autosomal-dominant spinocerebellar ataxias

Якутский медицинский журнал
The article is devoted to the prospects for the treatment of neurodegenerative diseases with dynamic mutations based on published studies of the search for approaches to the treatment of spinocerebellar ataxia.
S. K. Kononova
doaj   +1 more source

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype

Tremor and Other Hyperkinetic Movements, 2018
Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities.
Christopher L. Groth, Brian D. Berman
doaj   +1 more source