Results 21 to 30 of about 8,951 (161)
Current concepts in the treatment of hereditary ataxias
Arquivos de Neuro-Psiquiatria, 2016 Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral ...
Pedro Braga Neto +5 more
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]
Journal of Integrative Neuroscience, 2020 Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Annals of Clinical and Translational Neurology, 2021 Background Single‐center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such studies on pediatric populations with inherited peripheral neuropathies (IPNs).
Herminia Argente‐Escrig +8 more
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Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2009 Mitochondrial disorders (MIDs) are an increasingly recognized condition. The second most frequently affected organ in MIDs is the central nervous system. One of the most prevalent clinical CNS manifestations of MIDs is ataxia. Ataxia may be even the dominant manifestation of a MID.
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Correo Científico Médico, 2023 Introducción: La periodontitis y las enfermedades cardiovasculares de origen isquémico se han convertido en un serio problema para la salud pública a nivel mundial. Estas enfermedades tienen etiología multifactorial con un importante componente genético.
Maricelys Leonor Martínez Pérez +2 more
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Pediatric Neurology Briefs, 1987 Harding AE at the Institute of Neurology, London, author of the Hereditary Ataxias and Related Disorders (Edinburgh, Churchill Livingstone, 1984) reviews the classification, causes, clinical characteristics and treatment of degenerative ataxias.
J Gordon Millichap
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Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia
Journal of Integrative NeuroscienceThe clinical category of immune-mediated cerebellar ataxias (IMCAs) is now recognized after 3 decades of clinical and experimental research. The cerebellum gathers about 60% of neurons in the brain, is enriched in numerous plasticity mechanisms, and presents a large variety of antigens at the neuroglial level: ion channels and related proteins ...
Mario Manto, Hiroshi Mitoma
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Involvement of the Peripheral Nervous System in Episodic Ataxias
Biomedicines, 2020 Episodic ataxias comprise a group of inherited disorders, which have a common hallmark—transient attacks of ataxia. The genetic background is heterogeneous and the causative genes are not always identified.
Wojciech Koźmiński, Joanna Pera
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Hereditary Cerebellar Ataxias: A Korean Perspective [PDF]
Journal of Movement Disorders, 2015 Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements.
Ji Sun Kim, Jin Whan Cho
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Aproximación a la ingesta nutricional en pacientes con Ataxia Espinocerebelosa tipo 2
Revista Habanera de Ciencias Médicas, 2021 Introducción: La Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa y hereditaria. No se ha realizado ningún estudio para la caracterización de la ingesta nutricional en pacientes cubanos con SCA2.
Yasnay Jorge Saínz +3 more
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