Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins

Waliszewska‐Prosół, Marta; Obara, Krystian; Szewczyk, P.; Śniatowska, Małgorzata; Budrewićz, Sławomir

doi:10.1136/postgradmedj-2018-135566

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Creutzfeldt-jakob Disease1

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Cited by 2 publications

(2 citation statements)

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“…[ 2 4 5 6 7 8 9 10 ] Familial CJD may have an unusual onset of symptoms and an atypical clinical course. [ 11 ]…”

Section: Discussionmentioning

confidence: 99%

Familial Creutzfeldt–Jakob disease: The first reported kindred from South-East Asia

Sawal

Chakravarty

Puri

et al. 2019

Ann Indian Acad Neurol

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“…[ 2 4 5 6 7 8 9 10 ] Familial CJD may have an unusual onset of symptoms and an atypical clinical course. [ 11 ]…”

Section: Discussionmentioning

confidence: 99%

Familial Creutzfeldt–Jakob disease: The first reported kindred from South-East Asia

Sawal

Chakravarty

Puri

et al. 2019

Ann Indian Acad Neurol

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“…147 Ataxia can present as an isolated, early feature before the cognitive symptoms manifest in CJD. [148][149][150] Rapidly progressive aphasia to akinetic mutism and cortical blindness are common cognitive deficits, 146 and other higher cortical dysfunction, such as apraxia or auditory agnosia, can also occur. 149,151 The diagnosis of CJD has dramatically improved because of the recent development of CSF RT-QuIC analysis (sensitivity 92%, specificity 100% at UK National CJD Research and Surveillance Unit).…”

Section: Creutzfeldt-jakob Diseasementioning

confidence: 99%

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Lin

Kuo

2023

Semin Neurol

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A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A step-wise investigation will reveal underlying causes, including nutritional, toxin, immune-mediated, genetic, and degenerative disorders. Recent advances in genetics have identified new genes for both autosomal dominant and autosomal recessive ataxias, and new therapies are on the horizon for targeting specific biological pathways. New diagnostic criteria for degenerative ataxias have been proposed, specifically for multiple system atrophy, which will have a broad impact on the future clinical research in ataxia. In this article, we aim to provide a review focus on symptoms, laboratory testing, neuroimaging, and genetic testing for the diagnosis of cerebellar ataxia causes, with a special emphasis on recent advances. Strategies for the management of cerebellar ataxia is also discussed.

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Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins

Cited by 2 publications

References 1 publication

Familial Creutzfeldt–Jakob disease: The first reported kindred from South-East Asia

Familial Creutzfeldt–Jakob disease: The first reported kindred from South-East Asia

Ataxias: Hereditary, Acquired, and Reversible Etiologies

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