A Case of Subacute Progressive Cerebellar Ataxia

Pandey, Shuchit; Garg, Richa; Holla, Vikram V.; Kumar, Neeraj

doi:10.4103/0028-3886.310104

Cited by 3 publications

(1 citation statement)

References 4 publications

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“…These include acquired and inherited causes. The signal changes in the acquired forms have been reviewed elsewhere [31,47,48]. The inherited forms include two dominant ataxias, namely ataxiapancytopenia syndrome (OMIM 159550 [49], and SCA20 (OMIM 608687) [50], seven recessive ataxias, namely cerebrotendinous xanthomatosis (CTX) (OMIM 213700) [51], 2-hydroxic glutaric aciduria (OMIM 236792) [52], hypomyelinating leukodystrophy type 2 (HLD2) (OMIM 608804) [53], hypomyelinating leukodystrophy type 4 (OMIM 612233) [54], leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (OMIM 611105) [55], leukoencephalopathy with ataxia (OMIM 615651) [56], sensory ataxic neuropathy, dysarthria and ophtalmoparesis (SANDO) (OMIM 607459) [57], SCAR4/SCA24 (OMIM 607317) [58] and the X-linked fragile-X tremor ataxia syndrome (FXTAS) (OMIM 300623) [59].…”

Section: Progressive Ataxias Characterized By Mri Signal Changesmentioning

confidence: 99%

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Mascalchi¹

2022

Tomography

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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). The MRI-based CNS atrophy pattern was reviewed in 128 progressive ataxias. A CNS atrophy pattern was identified in 91 conditions: SA in Friedreich’s ataxia, CCA in 5 acquired and 72 (24 dominant, 47 recessive,1 X-linked) inherited ataxias, OPCA in Multi-System Atrophy and 12 (9 dominant, 2 recessive,1 X-linked) inherited ataxias. The MRI-based CNS atrophy pattern may be useful for genetic assessment, identification of shared cellular targets, repurposing therapies or the enlargement of drug indications in progressive ataxias.

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Section: Progressive Ataxias Characterized By Mri Signal Changesmentioning

confidence: 99%

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Mascalchi¹

2022

Tomography

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A Systematic Review of Sporadic Creutzfeldt-Jakob Disease: Pathogenesis, Diagnosis, and Therapeutic Attempts

Jurcau,

Diaconu

et al. 2024

Neurology International

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Creutzfeldt-Jakob disease is a rare neurodegenerative and invariably fatal disease with a fulminant course once the first clinical symptoms emerge. Its incidence appears to be rising, although the increasing figures may be related to the improved diagnostic tools. Due to the highly variable clinical picture at onset, many specialty physicians should be aware of this disease and refer the patient to a neurologist for complete evaluation. The diagnostic criteria have been changed based on the considerable progress made in research on the pathogenesis and on the identification of reliable biomarkers. Moreover, accumulated knowledge on pathogenesis led to the identification of a series of possible therapeutic targets, although, given the low incidence and very rapid course, the evaluation of safety and efficacy of these therapeutic strategies is challenging.

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Variante Atáxica Da Doença De Creutzfeldt-Jakob Após Infecção Por Covid-19: Relato De Caso

Amaral,

Lobo,

Souza

et al. 2023

Rev. Contemp.

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Introdução: A Doença de Creutzfeldt-Jakob é a doença priônica humana mais comum. Caracteriza-se por ser uma doença neurodegenerativa rara e fatal. Ainda não existe tratamento efetivo para esta grave doença. A Doença do coronavírus 2019, por sua vez, é uma síndrome respiratória causada pelo SARS-Cov-2, que além de alterações respiratórias, também causa alterações neurológicas devido à sua capacidade neuroinvasiva através da proteína spike. Relato de Caso: Neste relato de caso é descrito um paciente adulto, previamente hígido, que em vigência da infecção por SARS-Cov-2 iniciou quadro agudo de vertigem que evoluiu com alteração neurológica, ataxia e demência grave rapidamente progressiva. Após exames laboratoriais e exames de imagens, foi confirmado o diagnóstico de Doença de Creutzfeldt-Jakob (DCJ), variante clínica atáxica Brownell-Oppenheimer. Paciente foi a óbito após 4 meses do diagnóstico e 7 meses do início do quadro clínico. Conclusão: O envolvimento do sistema nervoso pela Covid 19 é bem descrito e envolve, dentre outros mecanismos, um estado neuroinflamatório. Este relato de caso destaca a relação temporal ocorrida entre SARS-CoV-2 e a neurodegeneração de DCJ, com ênfase em aspectos clínicos e diagnósticos. Essa associação é rara e mais estudos são necessários para elucidação da fisiopatogênese e especificidades clínico-diagnósticas envolvidas.

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A Case of Subacute Progressive Cerebellar Ataxia

Cited by 3 publications

References 4 publications

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

A Systematic Review of Sporadic Creutzfeldt-Jakob Disease: Pathogenesis, Diagnosis, and Therapeutic Attempts

Variante Atáxica Da Doença De Creutzfeldt-Jakob Após Infecção Por Covid-19: Relato De Caso

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