Corticobasal Syndrome, Optic Ataxia and Exaggerated Startle Response: An Atypical Presentation of Creutzfeldt‐Jakob Disease

2021 ◽  
Author(s):  
Jasper Broekmeulen ◽  
Sam Thissen
Keyword(s):  
Startle Response ◽  
Corticobasal Syndrome ◽  
Atypical Presentation ◽  
Optic Ataxia ◽  
Jakob Disease

scholarly journals A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Ján Necpál ◽  
Martin Stelzer ◽  
Silvia Koščová ◽  
Michal Patarák
Keyword(s):  
Corticobasal Degeneration ◽  
Early Death ◽  
Prnp Gene ◽  
Corticobasal Syndrome ◽  
Progressive Dementia ◽  
Rare Presentation ◽  
Alien Hand ◽  
Jakob Disease ◽  
Neurological Features ◽  
Characteristic Features

Creutzfeldt-Jakob disease (CJD) is an untreatable rare human prion disease characterized by rapidly progressive dementia along with various neurological features, including myoclonus and sometimes other movement disorders. The clinical course is typically insidious and rapid, leading to an early death. In general, the most common form is sporadic CJD; however, Slovakia is typical for a high percentage of genetic cases. We present an unusual case report of a 65-year-old man with a sudden, stroke-like onset of motor aphasia with right-sided levodopa unresponsive parkinsonism, alien hand, and other characteristic features of corticobasal syndrome (CBS), with rapid deterioration and death on the 32nd day of the disease. Various neurodegenerative disorders are manifested with CBS as a clinical phenotype, including corticobasal degeneration (CBD), progressive supranuclear palsy, Alzheimer’s disease, and CJD. In our patient, mutation E200K and M129M polymorphism of the PRNP gene and typical immunohistochemical findings pointed to a diagnosis of CJD. The patient’s mother died of CJD many years ago. Several CBS-CJD cases were described, but the atypical stroke-like onset of CBS-CJD, an extremely rare presentation of CJD, makes our case unique worldwide.

scholarly journals An Atypical Presentation of Creutzfeldt-Jakob Disease With a Heidenhain Variant and Balint's Syndrome

Cureus ◽  
2020 ◽  
Author(s):  
Abhishek Gupta ◽  
Anurag Dhingra
Keyword(s):  
Atypical Presentation ◽  
Jakob Disease

Characterising the uncommon corticobasal syndrome presentation of sporadic Creutzfeldt-Jakob disease

2013 ◽  
Vol 19 (1) ◽  
pp. 81-85 ◽  
Author(s):  
Will Lee ◽  
Marion Simpson ◽  
Helen Ling ◽  
Catriona Mclean ◽  
Steven Collins ◽  
...  
Keyword(s):  
Corticobasal Syndrome ◽  
Jakob Disease

scholarly journals Sparing of the substantia nigra in sporadic Creutzfeldt-Jakob disease presenting as an acute corticobasal syndrome

2007 ◽  
Vol 22 (11) ◽  
pp. 1668-1669 ◽  
Author(s):  
Wim Vandenberghe ◽  
Raf Sciot ◽  
Philippe Demaerel ◽  
Koen Van Laere
Keyword(s):  
Substantia Nigra ◽  
Corticobasal Syndrome ◽  
Jakob Disease

Familial Creutzfeldt–Jakob disease with M232R mutation presented with corticobasal syndrome

2014 ◽  
Vol 36 (7) ◽  
pp. 1291-1293 ◽  
Author(s):  
Jung Geol Lim ◽  
Eungseok Oh ◽  
Sangmin Park ◽  
Yong-Sun Kim ◽  
Aeyoung Lee
Keyword(s):  
Corticobasal Syndrome ◽  
Jakob Disease

scholarly journals Teaching Video NeuroImages: Optic Ataxia as the Presenting Sign of the Heidenhain Variant of Creutzfeldt-Jakob Disease

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012057
Author(s):  
Shi-Lin Yang ◽  
Xiang Han ◽  
Qiang Dong
Keyword(s):  
Optic Ataxia ◽  
Jakob Disease ◽  
Teaching Video

scholarly journals Pearls & Oy-sters: Typical Atypical Creutzfeld-Jakob Disease: A Case Presenting as a Rapidly Progressive Corticobasal Syndrome Without Dementia

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012613
Author(s):  
Zoe Olga Marinides ◽  
Timothy R Malone ◽  
Yitao Ma ◽  
Jason Hawley
Keyword(s):  
Diagnostic Testing ◽  
Behavioral Changes ◽  
Corticobasal Syndrome ◽  
Rapid Progression ◽  
Early Disease ◽  
Early Dementia ◽  
Progressive Neurodegeneration ◽  
Characteristic Imaging ◽  
Jakob Disease ◽  
High Index Of Suspicion

Creutzfeld-Jakob Disease (CJD) is a rare disease but a common cause of rapidly progressive neurodegeneration. Although the “classic” presentation involves early dementia or behavioral changes, there are well-described atypical variants with less prominent cognitive symptoms at onset. One such variant is Corticobasal Syndrome (CBS), which may be seen with other underlying neurodegenerative processes, but when due to prion disease pathology involves much more rapid progression and certain characteristic imaging findings. This report presents a case presenting as CBS without cognitive or behavioral changes at onset, which rapidly progressed and was determined ultimately to be due to underlying CJD. This case illustrates the need for a high index of suspicion for CJD in order to drive appropriate diagnostic testing and careful review of imaging and EEG findings, which may be subtle in early disease.

scholarly journals Corticobasal syndrome with Balint syndrome: a clue for Alzheimer disease pathology

2021 ◽  
Author(s):  
João Henrique Fregadolli Ferreira ◽  
Amanda Maieski ◽  
Caio Disserol ◽  
Helio Afonso Ghizoni Teive
Keyword(s):  
Alzheimer Disease ◽  
Fdg Pet ◽  
Brain Mri ◽  
Corticobasal Degeneration ◽  
Corticobasal Syndrome ◽  
Optic Ataxia ◽  
Left Hand ◽  
Oculomotor Apraxia ◽  
Dystonic Posturing ◽  
History Of

Context: Balint syndrome (BS), first described in 1909, has three core features: optic ataxia, oculomotor apraxia and simultanagnosia, and has been described after various conditions amongst vascular, infectious, demyelinating and degenerative diseases1 . It has already been reported concomitant with corticobasal syndrome (CBS)2 . Case report: 59 year-old male without history of previous diseases presented with behavior changes in the last two years. He had a previous diagnosis of “stroke” because frequent falls to the left side and difficulty in using his left hand for simple daily activities. After that, he gradually evolved with visual problems (bumped into objects inside his house), fear of walking or sitting, and required constant assistance for basic activities of daily living. On physical examination he presented with clear visuospatial dysfunction, characterized by simultanagnosia, oculomotor apraxia and optic ataxia. Bilateral asymmetric upper limb apraxia (worse on left side), dystonic posturing and stimulus-sensitive myoclonus in the left arm were also present. No signs of parkinsonism or language/speech disturbances were identified. Brain MRI showed severe asymmetric biparietal lobe atrophy (right more than left). DISCUSSION: The pathologic findings underlying CBS are variable, including Corticobasal Degeneration, Progressive Supranuclear Palsy, Frontotemporal Lobar Degeneration and Alzheimer Disease (AD). The association of BS and CBS favors the possibility of AD pathologic findings3 . Imaging methods like FDG-PET have recently been shown to be capable of distinguishing AD-related CBS from those associated with other pathologies4 . FDG-PET is not widely available in our country; than the presence of BS in CBS patients may individualize their treatment.

scholarly journals Sporadic Creutzfeldt-Jakob Disease Presenting as Corticobasal Syndrome: A Rare Case

2018 ◽  
Vol 24 (2) ◽  
pp. 177-179 ◽  
Author(s):  
Murat Gültekin ◽  
Recep Baydemir ◽  
Mehmet Fatih Göl ◽  
Meral Mirza
Keyword(s):  
Rare Case ◽  
Corticobasal Syndrome ◽  
Jakob Disease
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