Results 31 to 40 of about 6,068 (173)

An understanding of spinocerebellar ataxia

Indian Journal of Medical Research, 2015
Advances in molecular genetics techniques have given several approaches to diagnose most common complex genetic disorders and also these advances have helped to diagnose the rare complex disorders. Autosomal dominant cerebellar ataxias are a group of hereditary neurodegenerative disorders and are characterized by a generalized incoordination of gait ...
Ramachandra, N. B., Kusuma, L.
openaire   +3 more sources

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

International Archives of Otorhinolaryngology, 2017
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim, Juliana Cristina Mesti, Vinicius Ribas Fonseca, João Henrique Faryniuk, Jair Mendes Marques, Rafaella Cardosa Cardoso, Hélio Afonso Ghizoni Teive   +6 more
doaj   +1 more source

Ataxic Gait in Essential Tremor: A Disease-Associated Feature?

Tremor and Other Hyperkinetic Movements, 2019
Background: While accumulating evidence suggests that balance and gait impairments are commonly seen in patients with essential tremor (ET), questions remain regarding their prevalence, their relationship with normal aging, whether they are similar to ...
Ashwini K. Rao, Elan D. Louis
doaj   +1 more source

Characteristics of Individuals at Risk for Spinocerebellar Ataxia

Pediatric Neurology Briefs, 2013
Investigators at University Hospital of Bonn and 13 other centers in Germany, France, and Italy conducted a prospective, longitudinal observational study (2008-2011) of offspring or siblings of patients with spinocerebellar ataxias (SCA)-1, 2, 3, and 6.
J Gordon Millichap
doaj   +1 more source

Evaluation of Quality of Life After Use the Virtual Reality in Patients with Neurodegenerative Disease

International Archives of Otorhinolaryngology
Introduction Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases.
Jéssica Spricigo Malisky, Bianca Lopes Cavalcante-Leão, Maria Izabel Severiano, Geslaine Janaina Bueno dos Santos, Hélio Augusto Guizoni Teive, Maria Renata José, Cristiano Miranda de Araújo, Bianca Simone Zeigelboim   +7 more
doaj   +1 more source

Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal

Acta Médica Portuguesa
Spinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of ...
Vítor Mendes Ferreira, Marta Magriço, Bruna Meira, Raquel Barbosa   +3 more
doaj   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, EarlyView.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

An update on Spino-cerebellar ataxias

Annals of Indian Academy of Neurology, 2013
The dominantly inherited ataxias, also known as Spino-cerebellar ataxias (SCAs), are rapidly expanding entities. New mutations are being identified at remarkable regularity.
Banashree Mondal, Pritikanta Paul, Madhuparna Paul, Hrishikesh Kumar   +3 more
doaj   +1 more source