Prion Diseases

Geschwind, Michael D.

doi:10.1212/con.0000000000000251

Cited by 145 publications

(252 citation statements)

References 74 publications

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“…Perhaps the prototypical RPDs are prion diseases, such as Jakob-Creutzfeldt disease, which was covered in detail in the article “Prion Diseases” by Michael D. Geschwind, MD, PhD, 2 in the December 2015 Continuum issue and thus is not discussed in detail in this article. (As discussed in the December 2015 article, Jakob-Creutzfeldt disease was commonly referred to for many decades as Jakob or Jakob-Creutzfeldt disease until Clarence J. Gibbs, a prominent researcher in the field, started using the term Creutzfeldt-Jakob.…”

Section: Findings From Jakob-creutzfeldt Disease and Rapidly Progressmentioning

confidence: 99%

“…CSF pleocytosis or elevated CSF IgG index or oligoclonal bands might indicate an autoimmune or inflammatory process, such as paraneoplastic or other neuroimmunologic conditions. Although oligoclonal bands or elevated IgG index can occur in Jakob-Creutzfeldt disease, 2 their presence probably should prompt an autoimmune and paraneoplastic evaluation. In the author’s UCSF Jakob-Creutzfeldt disease–RPD cohort, several patients with RPD were identified who had either an elevated IgG index or oligoclonal bands and the presence of novel antineuronal antibodies in their serum and/or CSF.…”

Section: Diagnostic Approach To Rapidly Progressive Dementiasmentioning

confidence: 99%

“…Although some patients had cancer, in many, no cancers were identified despite thorough evaluation. 5,16,17 At the author’s center, sending the CSF biomarkers 14-3-3, total tau (t-tau), and neuron-specific enolase is always recommended, not necessarily as diagnostic tests for prion disease, because they are not, 2 but rather as markers of rapid neuronal injury. If these biomarkers are elevated, they help confirm the history of a rapidly progressive neurologic condition.…”

Section: Diagnostic Approach To Rapidly Progressive Dementiasmentioning

confidence: 99%

“…If prion disease is in the differential, the CSF real-time quaking induced conversion (RT-QuIC) test that detects prion seeding activity should be performed. 2 If AD is a consideration, consider sending CSF for phosphorylated tau (p-tau) and amyloid-β 42 (Aβ 42 ). As Aβ 42 sticks very strongly to regular plastic (lowering the measured value of the enzyme-linked immunosorbent assay [ELISA]), only polypropylene tubes should be used for collection; the CSF for that test should not touch regular plastic tubes or the manometer found in lumbar puncture trays.…”

Section: Diagnostic Approach To Rapidly Progressive Dementiasmentioning

confidence: 99%

“…41 Several other infections to consider are shown in Table 7-4 and in the December 2015 issue of Continuum . 2 …”

Section: Consideration Of Rapidly Progressive Dementias By Etiologicmentioning

confidence: 99%

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Rapidly Progressive Dementia

Geschwind¹

2016

CONTINUUM: Lifelong Learning in Neurology

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Purpose of Review This article presents a practical and informative approach to the evaluation of a patient with a rapidly progressive dementia (RPD). Recent Findings Prion diseases are the prototypical causes of RPD, but reversible causes of RPD might mimic prion disease and should always be considered in a differential diagnosis. Aside from prion diseases, the most common causes of RPD are atypical presentations of other neurodegenerative disorders, curable disorders including autoimmune encephalopathies, as well as some infections, and neoplasms. Numerous recent case reports suggest dural arterial venous fistulas sometimes cause RPDs. Summary RPDs, in which patients typically develop dementia over weeks to months, require an alternative differential than the slowly progressive dementias that occur over a few years. Because of their rapid decline, patients with RPDs necessitate urgent evaluation and often require an extensive workup, typically with multiple tests being sent or performed concurrently. Jakob-Creutzfeldt disease, perhaps the prototypical RPD, is often the first diagnosis many neurologists consider when treating a patient with rapid cognitive decline. Many conditions other than prion disease, however, including numerous reversible or curable conditions, can present as an RPD. This chapter discusses some of the major etiologies for RPDs and offers an algorithm for diagnosis.

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Section: Findings From Jakob-creutzfeldt Disease and Rapidly Progressmentioning

confidence: 99%

Section: Diagnostic Approach To Rapidly Progressive Dementiasmentioning

confidence: 99%

Section: Diagnostic Approach To Rapidly Progressive Dementiasmentioning

confidence: 99%

Section: Diagnostic Approach To Rapidly Progressive Dementiasmentioning

confidence: 99%

“…41 Several other infections to consider are shown in Table 7-4 and in the December 2015 issue of Continuum . 2 …”

Section: Consideration Of Rapidly Progressive Dementias By Etiologicmentioning

confidence: 99%

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Rapidly Progressive Dementia

Geschwind¹

2016

CONTINUUM: Lifelong Learning in Neurology

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132

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Precipitous Deterioration of Motor Function, Cognition, and Behavior

et al. 2017

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Following her son's death, a 72-year-old woman with a history of hypertension and hypothyroidism developed a year of severe depression, fell and broke her arm, and walked cautiously while dragging her right leg. A year later, she developed an unexplained dry cough and hoarseness. Two years after her initial fall, she complained of weakness and developed gait instability, needing to hold on to something when walking ("onset"). From this point, her deterioration was quick and included a sense of leg weakness, "not seeing well," and pronounced apathy. Seven months after "onset," an examination revealed symmetrical hyperreflexia with a jaw jerk and an overactive gag reflex but was otherwise normal, failing to identify weakness or gait unsteadiness. Between months 7 and 13, she was dizzy when turning without experiencing vertigo, and began losing her balance, falling twice. At 14 months, she needed a cane and could not concentrate or manage her checkbook, but she was oriented to the date, had a knowledge of recent events, and had a 3 of 3 oneminute recall.During months 14 through 16 she became more apathetic and depressed, had intermittent memory and orientation problems, worsening parkinsonism (bradykinesia, difficulty initiating movement, micrographia, emerging tremor, and intermittently needing a wheelchair) without ataxia, and favored her left leg when walking. By month 17 her apathy increased, and she occasionally dragged her right foot. On examination, she was alert and oriented to the month and year, had intact naming, and a normal cranial nerve examination, but she was intermittently tearful, had impaired spontaneous word generation and recall, mild hypomimia, mildly slowed bilateral rapid movements, retropulsion on standing, collapse on sitting, and normal stride only with assistance. She did, however, have normal strength, tone, sensation, reflexes, and plantar flexor responses without dysmetria.At 19 months, she had dysphagia, dysarthria, word-finding problems, difficulty turning in bed, and leg movements and talking during sleep. Carbidopa-levodopa failed to improve symptoms. A neurological examination also revealed a blunted affect, a 10 of 25 Montreal Cognitive Assessment score, mild hypomimia, right gaze diplopia, an impaired upgaze, moderately slowed rapid alternating movements, a bilateral pronator drift, extreme micrographia, and generalized parkinsonism, requiring assistance to rise from a chair and walk.At her first visit to the University of California, San Francisco Memory and Aging Center at 21 months, her family reported her intermittent word comprehension difficulty, paraphasias, pseudobulbar affect, and progressive myoclonus. Her examination showed distractibility, severe hypomimia, moderate hypophonia, slowed eyelid opening, a restricted vertical gaze, slowed horizontal and vertical saccades, a saccadic horizontal pursuit, marked axial and limb rigidity, extreme and predominantly right-sided bradykinesia, postural tremor, myoclonus, a marked grasp reflex, brisk reflexes, and upgoing plantar ...

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Ring trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD

Orrú

Groveman

Foutz

et al. 2020

Ann Clin Transl Neurol

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Objective: Real-time quaking-induced conversion (RT-QuIC) assays detect prion-seeding activity in a variety of human biospecimens, including cerebrospinal fluid and olfactory mucosa swabs. The assay has shown high diagnostic accuracy in patients with prion disorders. Recently, advances in these tests have led to markedly improved diagnostic sensitivity and reduced assay times. Accordingly, an algorithm has been proposed that entails the use of RT-QuIC analysis of both sample types to diagnose sporadic Creutzfeldt-Jakob disease with nearly 100% accuracy. Here we present a multi-center evaluation (ring trial) of the reproducibility of these improved "second generation" RT-QuIC assays as applied to these diagnostic specimens. Methods: Cerebrospinal fluid samples were analyzed from subjects with sporadic Creutzfeldt-Jakob (n = 55) or other neurological diseases (n = 45) at multiple clinical centers. Olfactory mucosa brushings collected by multiple otolaryngologists were obtained from nine sporadic Creutzfeldt-Jakob disease cases and 19 controls. These sample sets were initially tested blindly by RT-QuIC by a coordinating laboratory, recoded, and then sent to five additional testing laboratories for blinded ring trial testing. Results: Unblinding of the results by a third party indicated 98-100% concordance between the results obtained by the testing of these cerebrospinal fluid and nasal brushings at the six laboratories. Interpretation: This second-generation RT-QuIC assay is highly transferrable, reproducible, and therefore robust for the diagnosis of sporadic Creutzfeldt-Jakob disease in clinical practice.

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Prion Diseases

Cited by 145 publications

References 74 publications

Rapidly Progressive Dementia

Rapidly Progressive Dementia

Precipitous Deterioration of Motor Function, Cognition, and Behavior

Ring trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD

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