Results 31 to 40 of about 27,164 (223)

Increased sexual arousal in patients with movement disorders

Arquivos de Neuro-Psiquiatria, 2016
Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders.
Hélio A. G. Teive, Adriana Moro, Mariana Moscovich, Renato P. Munhoz   +3 more
doaj   +1 more source

Altered retinal structure and function in Spinocerebellar ataxia type 3

Neurobiology of Disease, 2022
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocytosis,
Vasileios Toulis, Ricardo Casaroli-Marano, Anna Camós-Carreras, Marc Figueras-Roca, Bernardo Sánchez-Dalmau, Esteban Muñoz, Naila S. Ashraf, Ana F. Ferreira, Naheed Khan, Gemma Marfany, Maria do Carmo Costa   +10 more
doaj   +1 more source

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]

, 2008
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen, Bezprozvanny, I, Nelson, O, Hammer, R, Tu, H, Nukina, N, O. Nelson, N. Nukina, Chen, X, Tang, TS, T.-S. Tang, Pook, M, H. Tu, R. Hammer, I. Bezprozvanny, M. Pook   +15 more
core   +1 more source

Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3 [PDF]

, 2021
Background: Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease‐related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity. /
Dagmar Timmann‐Braun, Matthis Synofzik, Joules, R, Schoels, Ludger, Alexandra Durr, Schmid, Matthias, Marcondes Cavalcante França, França, Marcondes Cavalcante, Bender, B, Kang, Jun‐suk, Gaalen, J, Gaalen, Judith van, Jun‐Suk Kang, Judith van Gaalen, Timmann-Braun, Dagmar, Robin Wolz, Diedrichsen, J, Warrenburg, B, Jiang Hong, Reetz, K, Synofzik, M, van de Warrenburg, Bart, Kang, Jun-Suk, Kathrin Reetz, Paola Giunti, Warrenburg, Bart, Tamara Schaprian, Mochel, Fanny, Synofzik, Matthis, Giunti, P, Timmann-Braun, D, Thomas Klockgether, Hong, J, Benjamin Bender, Liao, Weihua, Romanzetti, Sandro, Joers, J, de Rezende, Thiago Junqueira Ribeiro, Rezende, Thiago Junqueira Ribeiro de, Infante, Jon, Diedrichsen, Jorn, Ludger Schoels, Garcia‐moreno, Hector, Schoels, L, Matthias Schmid, Gulin Oz, Holger Hengel, Warrenburg, Bart van de, Mochel, F, Jon Infante, Jorn Diedrichsen, Faber, Jennifer, Infante Ceberio, Jon, Berkan, K, Gaalen, Judith, Thiago Junqueira Ribeiro de Rezende, Garcia-Moreno, Hector, Jennifer Faber, Klockgether, T, Weihua Liao, Durr, Alexandra, Garcia-Moreno, H, Hong, Jiang, Joules, Richard, Joers, James, Vries, Jereon,, Jacobi, H, de Vries, Jereon J., Hengel, Holger, van Gaalen, Judith, Jereon J. de Vries, Durr, A, Bender, Benjamin, Schaprian, T, Timmann‐braun, Dagmar, Infante, J, Kang, J-S, Giunti, Paola, Koyak Berkan, Wolz, R, Schmid, M, Vries, Jereon, J, Klockgether, Thomas, Faber, J, Jacobi, Heike, James Joers, Richard Joules, Romanzetti, S, Vries, JJ, Berkan, Koyak, Oz, Gulin, Vries, Jereon J., Rezende, Thiago Junqueira Ribeiro, Sandro Romanzetti, Fanny Mochel, Franca, MC, Liao, W, Reetz, Kathrin, Hector Garcia‐Moreno, Hengel, H, Rezende, TJR, Heike Jacobi, Wolz, Robin, Schaprian, Tamara, Oz, G, Bart van de Warrenburg   +105 more
core   +1 more source

Homozygous spinocerebellar ataxia type 3 in China: a case report

Journal of International Medical Research, 2021
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene ( ATXN3 ). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely ...
Yuchao Chen, Dan Li, Minger Wei, Menglu Zhou, Linan Zhang, Jiaoyang Yu, Mengqiu Qiu, Yi Jin, Xiaodong Lu   +8 more
doaj   +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

Establish a Nomogram to Predict Falls in Spinocerebellar Ataxia Type 3

Frontiers in Neurology, 2021
Purpose: Falls are common and are frequently accompanied by injuries in patients with spinocerebellar ataxias type 3 (SCA3). We explored which factors could predict falls in a cohort of patients with SCA3 and developed a nomogram model to predict the ...
Junyu Lin, Lingyu Zhang, Bei Cao, Qianqian Wei, Ruwei Ou, Yanbing Hou, Xinran Xu, Kuncheng Liu, Xiaojing Gu, Huifang Shang   +9 more
doaj   +1 more source

The Role of MicroRNAs in Spinocerebellar Ataxia Type 3

Journal of Molecular Biology, 2019
More than 90% of the human genome are transcribed as non-coding RNAs. While it is still under debate if all these non-coding transcripts are functional, there is emerging evidence that RNA has several important functions in addition to coding for proteins.
Krauss, Sybille, Evert, Bernd O
openaire   +3 more sources

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content [PDF]

, 2011
Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ...
Darren G. Monckton, Monckton, Darren G,, Monckton, D.G., Colm E. Nestor, Nestor, C.E., Nestor, Colm,, Darren G Monckton, Colm E Nestor   +7 more
core   +1 more source

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia [PDF]

Cerebellum & Ataxias, 2020
AbstractSpinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the first description of relative frequencies of the common SCA mutations and of phenotypic characteristics of SCA3 patients among Malaysians. Pooled data from adult Malaysian patients who had undergone
Norlinah Mohamed Ibrahim, Yue Hui Lau, Noorasyikin Ariffin, Siti Hajar Md Desa, Elena Azizan, Long Kha Chin, Shahrul Azmin Md. Rani, Yusnita Yakob, Santhi Datuk Puvanarajah, Bart van de Warrenburg   +9 more
openaire   +4 more sources