Results 161 to 170 of about 4,884 (187)

Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD

Magnetic Resonance Imaging, 2014
Spinocerebellar ataxia type 3 (SCA3) and Machado-Joseph disease (MJD) are similar diseases that are often referred to jointly as SCA3/MJD. As the most common autosomal-dominantly inherited subtype of hereditary spastic paraplegia (HSP), HSP4 (or SPG4) has overlapping symptoms with SCA3/MJD, which hinders their diagnoses. Arterial spin labeling (ASL) is
Wu, Xing, Xiao-yi, Wang, Xin-xin, Liao, Wei-hua, Liao, Lu, Shen   +4 more
openaire   +2 more sources

The human MJD gene: genomic structure and functional characterization of the promoter region

Gene, 2003
Machado-Joseph disease (MJD) is a progressive neurodegenerative disorder caused by expansion of a CAG motif within the translated region of the human MJD (hMJD) gene which has been mapped to chromosome 14q. In this study, the hMJD gene was identified in two overlapping bacterial artificial chromosome (BAC) clones and contained 11 exons resulting in a 6.
Ina, Schmitt, Bernd O, Evert, Hassan, Khazneh, Thomas, Klockgether, Ullrich, Wuellner   +4 more
openaire   +2 more sources

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype [PDF]

Annals of Neurology, 2001
We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado-Joseph Disease/Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurological abnormalities are only present in 2.
Berry Kremer, Martin W I M Horstink, M W Horstink   +2 more
exaly   +4 more sources

[Diffusion weighted imaging of SCA3/MJD and SPG4].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2015
To determine the value of diffusion weighted imaging (DWI) in the diagnosis of hereditary spinocerebellar ataxia 3 and the Machado Joseph disease (SCA3/MJD) and hereditary spastic paraplegia 4 (SPG4).We scanned 13 patients with SPG4, 30 patients with SCA3/MJD (21 onset patients and 9 with only genetic abnormalities), and 27 healthy volunteers with DWI.
Wu, Xing, Xiaoyi, Wang, Xinxin, Liao, Lu, Shen, Weihua, Liao   +4 more
openaire   +1 more source

The Shortest Expanded Allele of the MJD1 Gene in a Chinese MJD Kindred with Autonomic Dysfunction

European Neurology, 2004
Machado-Joseph disease (MJD) is the most common type of autosomal dominant spinocerebellar ataxia caused by an expanded CAG repeat in the MJD1 gene. Intermediate CAG alleles have been previously described, and they tend to be associated with unusual manifestations of the nervous system. Here we describe a Chinese kindred with hereditary spinocerebellar
Weihong, Gu, Huizi, Ma, Kang, Wang, Miao, Jin, Yongxing, Zhou, Xingzhou, Liu, Guoxiang, Wang, Yan, Shen   +7 more
openaire   +2 more sources

Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family

Journal of the Neurological Sciences, 1998
We studied the relationship between the number of CAG repeat units in the MJD1 gene and clinical features of Machado-Joseph disease (MJD) in eight patients from two generations of a Japanese MJD family. Because of lack of characteristic clinical signs of MJD such as dystonia, bulging eyes or facial myokymia, clinical diagnosis of MJD in this family was
Shin-Ichi Muramatsu, Haruo Shimazaki, K Sakoe   +2 more
exaly   +3 more sources

Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

Journal of the Neurological Sciences, 2009
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia associated with varying phenotypic variability. It was reported that a few of SCA3/MJD patients showed marked spastic paraplegia with or without cerebellar ataxia, which was partially first diagnosed as ...
Yin-guang, Wang, Juan, Du, Jun-ling, Wang, Juan, Chen, Chong, Chen, Ying-ying, Luo, Zhi-quan, Xiao, Hong, Jiang, Xin-xiang, Yan, Kun, Xia, Qian, Pan, Bei-sha, Tang, Lu, Shen   +12 more
openaire   +2 more sources

[Value of 1H-MRS on SCA3/MJD diagnosis and clinical course].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2018
To investigate the value of proton magnetic resonance spectroscopy (1H-MRS) on the diagnosis of SCA3/MJD, and to calculate the correlation between 1H-MRS ratio and the clinical score.
 Methods: Sixteen patients with SCA3/MJD and 19 healthy volunteers were scanned with 1H-MRS.
Wu, Xing, Xinxin, Liao, Tingting, Guan, Fangfang, Xie, Lu, Shen, Weihua, Liao, Xiaoyi, Wang   +6 more
openaire   +1 more source

Immunotolerance strategies to improve cell-bases therapy outcomes in MJD

2023
Outro - This work was funded by the European Regional Development Fund (ERDF) through the Centro 2020 Regional Operational Programme under BrainHealth2020 projects (CENTRO-01-0145-FEDER-000008), through the COMPETE 2020 - Operational Programme for Competitiveness and Internationalization and Portuguese national funds via FCT – Fundação para a Ciência e
openaire   +1 more source

[Screening for proteins interacting with ataxin-3, the gene product of SCA3/MJD].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2006
To screen for proteins interacting with ataxin-3 by yeast two-hybrid system 3, and to discuss the function of ataxin-3 and pathogenesis of spinocerebellar ataxia type 3 and Machado-Joseph disease (SCA3/MJD).First we sub-cloned the full reading frame of both wild-type and mutant ataxin-3 into carrier pGBKT7 (ataxin-3-bait), and then screened human brain
Lu, Shen, Bei-sha, Tang, Jian-guang, Tang, Hong, Jiang, Cheng, Wang, Hai-yan, Fang   +5 more
openaire   +1 more source