Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum

2021 ◽  
Vol 87 ◽  
pp. 22-24
Author(s):  
Vikram V. Holla ◽  
Bharath Kumar Surisetti ◽  
Shweta Prasad ◽  
Pramod Kumar Pal
2020 ◽  
Vol 11 ◽  
Author(s):  
Parham Habibzadeh ◽  
Zahra Tabatabaei ◽  
Soroor Inaloo ◽  
Muhammad Mahdi Nashatizadeh ◽  
Matthis Synofzik ◽  
...  

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.


2003 ◽  
Vol 17 (4) ◽  
pp. 195-202 ◽  
Author(s):  
Vanessa K. Lim ◽  
John L. Bradshaw ◽  
Michael E.R. Nicholls ◽  
Ian J. Kirk ◽  
Jeff P. Hamm ◽  
...  

AbstractSimple tapping and complex movements (Luria finger apposition task) were performed unimanually and bimanually by two groups of professional guitarists while EEG was recorded from electrodes over the sensorimotor cortex. One group had a task-specific movement disorder (focal dystonia or musicians' cramp), while the other group did not (controls). There were no significant group interactions in the task-related power (TRPow) within the alpha range of 8-10Hz (mu1). In contrast, there was a significant group interaction within the alpha range of 10-12Hz (mu2); these latter frequencies are associated with task-specific sensorimotor integration. The significant group interaction included task (simple and complex) by hand (left, right, and both) by electrodes (10 electrodes over the sensorimotor areas). In the rest conditions, the alpha power (10-12Hz) was comparable between the groups; during movement, however, compared to the controls, patients demonstrated the greatest TRPow (10-12Hz) over all conditions. This was particularly evident when patients used their affected hand and suggests that patients with musicians' cramp have impaired task-specific sensorimotor integration.


2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  

2003 ◽  
Vol 166 (1) ◽  
pp. 177-185 ◽  
Author(s):  
Takao Maruyama ◽  
Naohiko Sakai ◽  
Masato Ishigami ◽  
Ken-ichi Hirano ◽  
Takeshi Arai ◽  
...  

2020 ◽  
Vol 58 (1) ◽  
pp. 30-33
Author(s):  
Meenakshi Lallar ◽  
Sunita Bijarnia-Mahay ◽  
I. C. Verma ◽  
Kaushik Mandal ◽  
Ratna Dua Puri

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