The differential diagnosis of chorea [PDF]
, 2007 Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
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Trehalose alleviates the phenotype of Machado–Joseph disease mouse models [PDF]
, 2020 Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Cavadas, Cláudia +10 more
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Calcium Deregulation: Novel Insights to Understand Friedreich’s Ataxia Pathophysiology
Frontiers in Cellular Neuroscience, 2018 Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder, characterized by degeneration of dorsal root ganglia, cerebellum and cardiomyopathy. Heart failure is one of the most common causes of death for FRDA patients.
Rosella Abeti +4 more
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Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA
Frontiers in Neurology, 2020 Spinocerebellar ataxias are progressive neurodegenerative disorders primarily affecting the cerebellum. Although the first disease-causing gene was identified nearly 30 years ago, there is no known cure to date, and only a few options exist for ...
Chih-Chun Lin +4 more
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Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]
, 2014 © The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Al-Mahdawi +57 more
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Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. [PDF]
, 2012 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a pathological expansion of a polyglutamine (polyQ) tract in the coding region of the ATXN2 gene.
Hansen, Stephen T +3 more
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Sedative and antinociceptive effects of different combinations of detomidine and methadone in standing horses [PDF]
, 2017 Objective To evaluate intravenous (IV) detomidine with methadone in horses to identify a combination which provides sedation and antinociception without adverse effects. Study design Randomized, placebo-controlled, blinded, crossover.
Crosignani, N +6 more
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Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]
, 2008 Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas +3 more
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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption
Frontiers in Cellular Neuroscience, 2018 Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine tract within the ATXN1 gene.
Suran Nethisinghe +9 more
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Differential diagnostic relevance of high resolution magnetic resonance in patients with possible multiple system atrophy (MSA) – a case report [Važnost uporabe magnetne rezonancije visoke rezolucije u dijagnostici moguće multiple sistemske atrofije - prikaz slučaja] [PDF]
, 2011 Multiple system atrophy (MSA) is sporadic, progressive neurodegenerative disorder characterized clinically by autonomic dysfunction, Parkinsonism (MSA-P), and cerebellar ataxia (MSA-C) in any combination.
Bačić Baronica, Koraljka +3 more
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