COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency
Metabolites, 2022 COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy ...
Justyna Paprocka +3 more
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Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play? [PDF]
, 2017 Background and purpose: Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination without a genetic cause.
A Mignarri +12 more
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Frontiers in ImmunologyIntroductionVery rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin
Sarah Jesse +29 more
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Arquivos de Neuro-Psiquiatria, 2015 Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation.
Wladimir Bocca Vieira de Rezende Pinto +4 more
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Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study [PDF]
, 2015 Background: Friedreich’s ataxia (FRDA) is the most common hereditary autosomal recessive form of ataxia. In this disease there is early manifestation of gait ataxia, and dysmetria of the arms and legs which causes impairment in daily activities that ...
Bertini, Enrico +7 more
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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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Neurologijos seminarai, 2023 Introduction. As more information about cerebellar ataxia induced by anti- GAD65 antibodies is accumulated, cerebellar dysfunction is increasingly associated with autoimmune causes.
J. Valinčiūtė +3 more
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Frontiers in Neurology, 2022 A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc ...
Lorenzo Nanetti +13 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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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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