Results 31 to 40 of about 26,249 (178)

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1

Stem Cell Research, 2022
The most common autosomal dominant ataxia worldwide, spinocerebellar ataxia type 3 (SCA3) is a fatal, progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the ATXN3 gene.
Lauren R. Moore, Laura Keller, Henry L. Paulson, Gary D. Smith   +3 more
doaj   +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

Spinocerebellar Ataxia Type 3: A Case Report and Literature Review [PDF]

Journal of Neuropathology & Experimental Neurology, 2020
Abstract Spinocerebellar ataxia type 3 (SCA3), also known by the eponym Machado-Joseph disease, is an autosomal dominant CAG trinucleotide (polyglutamine) repeat disease that presents in young- to middle-aged adults. SCA3 was first described in Azorean individuals and has interesting epidemiological patterns.
Matthew R, McCord, Eileen H, Bigio, Kwok Ling, Kam, Victoria, Fischer, Farres, Obeidin, Charles L, White, Daniel J, Brat, William A, Muller, Qinwen, Mao   +8 more
openaire   +2 more sources

Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2)

Arquivos de Neuro-Psiquiatria, 2011
OBJECTIVE: To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3.
Bianca Simone Zeigelboim, Hélio A.G. Teive, Rosane Sampaio, Ari Leon Jurkiewicz, Paulo B.N. Liberalesso   +4 more
doaj   +1 more source

Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila. [PDF]

PLoS Genetics, 2007
Spinocerebellar ataxia type-3 (SCA3) is among the most common dominantly inherited ataxias, and is one of nine devastating human neurodegenerative diseases caused by the expansion of a CAG repeat encoding glutamine within the gene.
Julide Bilen, Nancy M Bonini
doaj   +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

The progression rate of spinocerebellar ataxia type 3 varies with disease stage

Journal of Translational Medicine, 2022
Background In polyglutamine (polyQ) diseases, the identification of modifiers and the construction of prediction model for progression facilitate genetic counseling, clinical management and therapeutic interventions.
Linliu Peng, Yun Peng, Zhao Chen, Chunrong Wang, Zhe Long, Huirong Peng, Yuting Shi, Lu Shen, Kun Xia, Vanessa B. Leotti, Laura Bannach Jardim, Beisha Tang, Rong Qiu, Hong Jiang   +13 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 [PDF]

, 2006
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable
openaire   +2 more sources