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Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia [PDF]
Scientific ReportsSpinocerebellar ataxias (SCA) are rare neurodegenerative diseases affecting the cerebellum and its connections, leading to progressive motor disability and cognitive impairment as part of the cerebellar cognitive affective syndrome.
Simona Karamazovova +9 more
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Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies [PDF]
Frontiers in NeurologyNeurological disorders pose a rapidly growing global health burden, significantly affecting cognitive and motor functions with profound societal repercussions.
Umar Saeed +11 more
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Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia [PDF]
Annals of Indian Academy of NeurologyHereditary ataxias are a group of disorders characterized by clinical manifestations of cerebellar degeneration. Autosomal dominant and recessive forms have been described, and tandem nucleotide repeat expansion are the most prevalent forms of genetic ...
Pooja Sharma +5 more
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The role of sleep in neuromuscular disorders
Frontiers in Neurology, 2023 Sleep represents a major frontier both in clinical myology and as a new possibility for delivering treatment to neuromuscular patients since various neuromuscular cases present a variable degree of disordered sleep and such conditions should be diagnosed
Corrado I. Angelini +2 more
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Continuum, 2016 This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia.Ataxia is a manifestation of a variety of disease processes, and an underlying etiology needs to be investigated.
Tetsuo, Ashizawa, Guangbin, Xia
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Treatable Ataxias: How to Find the Needle in the Haystack? [PDF]
Journal of Movement Disorders, 2022 Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular ...
Albert Stezin, Pramod Kumar Pal
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Neurologic Clinics, 2015 Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer.
Umar, Akbar, Tetsuo, Ashizawa
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Ataxias hereditarias: clasificación y diagnóstico
Kranion, 2022 Las ataxias hereditarias (AH) son enfermedades neurodegenerativas de base genética que traducen una disfunción del cerebelo y sus conexiones. Si el cuadro clínico se limita a la afectación del cerebelo se consideran «ataxias puras»; si implica la ...
Francisco Javier Arpa Gutiérrez +1 more
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MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias
Tomography, 2022 MRI shows the three archetypal patterns of CNS volume loss underlying progressive ataxias in vivo, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA).
Mario Mascalchi
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Frontiers in Neurology, 2017 BackgroundSpinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology.AimTo ...
Dennis Almaguer-Gotay +8 more
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