Results 51 to 60 of about 7,196 (214)

Recent advances in hereditary spinocerebellar ataxias.

, 2005
Contains fulltext : 48490.pdf (Publisher’s version ) (Open Access)In recent years, molecular genetic research has unraveled a major part of the genetic background of autosomal dominant and recessive spinocerebellar ataxias.
Warrenburg, B.P.C. van de, Kremer, Berry, van de Warrenburg, Bart P C, Sinke, R.J., Sinke, Richard J, Kremer, H.P.H.   +5 more
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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

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
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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

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

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

, 2008
A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic ...
Suzuki, Chieko, Tomiyama, Masahiko, Jackson, Mandy, Ikeda, Yoshio, Yamamoto-Watanabe, Yukiko, Watanabe, Mitsunori, Kawarabayashi, Takeshi, Shoji, Mikio, Wakasaya, Yasuhito, Monai, Natsuki, Kimura, Tamaki, Miki, Yasuo, Matsubara, Etsuro, Seino, Yusuke   +13 more
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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

Spinocerebellar Ataxias

, 2021
Dr.
Andrew G. Lee, MD; Nicole Weber
core  

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