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
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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
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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
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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
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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
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Ataxia telangiectasia: a review
Orphanet Journal of Rare Diseases, 2016 Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt +5 more
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Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
Tomography, 2021 Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical ...
Petya Bogdanova-Mihaylova +6 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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Progressive ataxia with oculo-palatal tremor and optic atrophy [PDF]
, 2013 The final publication is available at Springer via doi: 10.1007/s00415-013-7136-
A. M. Bronstein +17 more
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Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients
Frontiers in Neurology, 2021 Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process.
Alexander F. Brown +6 more
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