ATM deficiency results in accumulation of DNA-Topoisomerase I covalent intermediates in neural cells [PDF]
, 2013 Accumulation of peptide-linked DNA breaks contributes to neurodegeration in humans. This is typified by defects in tyrosyl DNA phosphodiesterase 1 (TDP1) and human hereditary ataxia.
Alagoz, Meryem +3 more
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Orphanet Journal of Rare Diseases, 2023 Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three European
Stephen Morris +9 more
doaj +1 more source
Guidelines on the diagnosis and management of the progressive ataxias
Orphanet Journal of Rare Diseases, 2019 The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions,
Rajith de Silva +6 more
doaj +1 more source
Patient pathways for rare diseases in Europe: ataxia as an example
Orphanet Journal of Rare Diseases, 2023 Background Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them.
Julie Vallortigara +9 more
doaj +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. [PDF]
, 2020 Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient ...
Dahlgren, Anna R +6 more
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Spinocerebellar Ataxia Type 2 [PDF]
, 2012 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg +3 more
core +1 more source
Continuum, 2019 This article reviews the symptoms, laboratory and neuroimaging diagnostic tests, genetics, and management of cerebellar ataxia.Recent advances in genetics have led to the identification of novel genetic causes for ataxia and a more comprehensive understanding of the biological pathways critical for normal cerebellar function.
openaire +2 more sources
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]
, 2019 Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore +8 more
core +1 more source
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]
, 2009 Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L +34 more
core +1 more source