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   Articles with "cerebellar ataxia" as a keyword



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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres

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recommendations! Published in 2018 at "Journal of Neurology"

DOI: 10.1007/s00415-018-8872-1

Abstract: The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh… read more here.

Keywords: cerebellar ataxia; ataxia neuropathy; muscle; cough ... See more keywords
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Globus pallidus internus stimulation in spino-cerebellar ataxia type 3

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recommendations! Published in 2018 at "Journal of Neurology"

DOI: 10.1007/s00415-018-8922-8

Abstract: Spino-cerebellar ataxia type 3 (SCA3) is a polyglutamine repeat neurodegenerative disorder sometimes associated with pyramidal signs and dystonia [3]. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has been shown to be an… read more here.

Keywords: cerebellar ataxia; stimulation; dystonia; gpi ... See more keywords
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DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)

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recommendations! Published in 2019 at "Neurological Sciences"

DOI: 10.1007/s10072-019-03859-7

Abstract: Dear Sir, Autosomal dominant cerebellar ataxias (ADCA) are a group of heterogeneous clinical conditions characterized by frequent association of progressive ataxia with a plethora of different neurological symptoms. They can underlie a broad genetic background… read more here.

Keywords: dominant cerebellar; cerebellar ataxia; ataxia; hearing ... See more keywords
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3 Hz postural tremor: A specific and sensitive sign of cerebellar dysfunction in patients with cerebellar ataxia

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recommendations! Published in 2020 at "Clinical Neurophysiology"

DOI: 10.1016/j.clinph.2020.07.007

Abstract: OBJECTIVE 3 Hz postural tremor was described in patients with anterior cerebellar lobe atrophy, however sensitivity and specificity of this sign in degenerative cerebellar diseases has not yet been evaluated. Our aim was to assess the… read more here.

Keywords: cerebellar ataxia; postural tremor; patients cerebellar; sign ... See more keywords
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Anti-Homer-3 antibody associated cerebellar ataxia: A rare case report and literature review

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recommendations! Published in 2019 at "Journal of Neuroimmunology"

DOI: 10.1016/j.jneuroim.2019.01.002

Abstract: Anti-Homer-3 antibody associated cerebellar ataxia is a rare autoimmune cerebellar ataxia, which had been previously reported in 2 cases only. Here we present the third case where a middle-aged female experienced progressive cerebellar ataxia. A… read more here.

Keywords: cerebellar ataxia; ataxia; homer antibody; antibody associated ... See more keywords

VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)

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recommendations! Published in 2017 at "Journal of the Neurological Sciences"

DOI: 10.1016/j.jns.2017.04.029

Abstract: We report on a 65-year old patient referred to our department with progressive gait ataxia and oscillopsia. Approximately 6 years before, the patient had developed an unsteadiness of gait, especially on uneven ground. Therewas no… read more here.

Keywords: cerebellar ataxia; ataxia neuropathy; ataxia; canvas ... See more keywords

Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients

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recommendations! Published in 2018 at "Journal of the Neurological Sciences"

DOI: 10.1016/j.jns.2017.11.008

Abstract: Cortical cerebellar atrophy (CCA) and multiple system atrophy with predominant cerebellar ataxia (MSA-C) are the two major forms of adult-onset sporadic ataxia. Contrary to MSA-C, there are neither diagnostic criteria nor neuroimaging features pathognomonic for… read more here.

Keywords: cerebellar ataxia; ataxia; idiopathic cerebellar; ataxia idca ... See more keywords
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Concurrence of multiple sclerosis, oligodendroglioma, and autosomal recessive cerebellar ataxia with spasticity in the same patient: A challenging diagnosis.

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recommendations! Published in 2020 at "Multiple sclerosis and related disorders"

DOI: 10.1016/j.msard.2020.101945

Abstract: Multiple sclerosis (MS) has been described in several case reports to coexist with brain tumors. This unusual concurrence has been the subject of research projects with a common question of whether these pathological entities share… read more here.

Keywords: sclerosis; cerebellar ataxia; oligodendroglioma autosomal; multiple sclerosis ... See more keywords

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

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recommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"

DOI: 10.1016/j.ymgmr.2019.100528

Abstract: We report on a homozygote missense SCO2 mutation (p.Arg255Trp) in two sibs with cerebellar ataxia, progressive peripheral axonal neuropathy and long survival. While most patients reported so far presented with severe COX deficiency and fatal… read more here.

Keywords: cerebellar ataxia; sco2; axonal neuropathy; control values ... See more keywords
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Neurological disease prediction using impaired gait analysis for foot position in cerebellar ataxia by ensemble approach

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recommendations! Published in 2023 at "Automatika"

DOI: 10.1080/00051144.2023.2194097

Abstract: In neurological field, Cerebellar Ataxia (CA) prediction is done with Gait values of human actions. The Analysis of Gait (AoG) may lead the good treatment. The goal of this work was to develop a machine-learning-based… read more here.

Keywords: disease; prediction; analysis; cerebellar ataxia ... See more keywords
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Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia

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recommendations! Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy050

Abstract: Among the many types of neurons expressing protein kinase C (PKC) enzymes, cerebellar Purkinje neurons are particularly reliant on appropriate PKC activity for maintaining homeostasis. The importance of PKC enzymes in Purkinje neuron health is… read more here.

Keywords: cerebellar ataxia; purkinje neuron; protein kinase; pkc ... See more keywords