Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

Creutzfeldt-Jakob Disease (CJD), Classic


KEY FACTS

Terminology

  • Creutzfeldt-Jakob disease (CJD): Rapidly progressing, fatal, potentially transmissible dementia caused by prion

Imaging

  • Best imaging clue: Progressive T2 hyperintensity of basal ganglia, thalamus, and cerebral cortex

  • Predominantly gray matter: Caudate and putamen > globus pallidus

    • Thalamus: Common in variant CJD (vCJD)

    • Cerebral cortex: Frontal, parietal, and temporal

  • Heidenhain variant: Occipital lobe

  • 2 signs seen in 90% of vCJD but can also occur in sporadic CJD (sCJD)

    • Pulvinar sign: Symmetric T2 hyperintensity of pulvinar of thalamus

    • Hockey-stick sign: Symmetric pulvinar and dorsomedial thalamic nuclear hyperintensity

  • Best imaging tool: MR with DWI

Top Differential Diagnoses

  • Hypoxic-ischemic injury

  • Osmotic demyelination syndrome

  • Other causes of dementia

    • Alzheimer, frontotemporal, multiinfarct dementia, dementia in motor neuron disease

  • Leigh syndrome

  • Corticobasal degeneration

Clinical Issues

  • Definite CJD diagnosed by brain biopsy or autopsy

  • Progressive dementia associated with myoclonic jerks and akinetic mutism; variable constellation of pyramidal, extrapyramidal, and cerebellar signs

  • Cerebrospinal fluid (CSF) protein biomarkers: 14-3-3 protein, total tau (t-tau), and neuron-specific enolase

  • DWI MR has higher diagnostic accuracy, 97% than any or all of these 3 CSF biomarkers

  • Incidence 1 per 1,000,000 (USA and internationally)

    • sCJD (85%), familial (15%), infectious/iatrogenic (< 1%) (includes vCJD)

  • Death usually ensues within months of onset

Axial DWI in a 67-year-old man with rapidly progressing dementia shows typical findings of sporadic Creutzfeldt-Jakob disease (sCJD). There is symmetric restricted diffusion involving the caudate nuclei
and putamina
.

Axial FLAIR MR in the same patient shows corresponding high signal in the caudate nuclei
and putamina
. CJD is a rapidly progressing, fatal, neurodegenerative disorder caused by a prion. MR with DWI is the imaging procedure of choice.

Axial DWI in a patient with sCJD demonstrates restricted diffusion involving the caudate nuclei
and putamina
. There is also involvement of the posteromedial thalami
, giving the classic hockey-stick sign.

Axial DWI in a patient with variant CJD (vCJD) shows classic pulvinar sign with symmetric hyperintensity in the posterior thalami
. The hockey-stick and pulvinar signs are seen in 90% of vCJD but can also occur in sCJD.

TERMINOLOGY

Abbreviations

  • Creutzfeldt-Jakob disease (CJD)

  • Sporadic Creutzfeldt-Jakob disease (sCJD)

  • Variant Creutzfeldt-Jakob disease (vCJD)

Definitions

  • Rapidly progressing, fatal, neurodegenerative disorder caused by prion (proteinaceous infectious particle devoid of DNA and RNA)

    • Transmissible spongiform encephalopathy

IMAGING

General Features

  • Best diagnostic clue

    • Progressive T2 hyperintensity of basal ganglia (BG), thalamus, and cerebral cortex

  • Location

    • Predominantly gray matter (GM)

      • –

        BG: Caudate and putamen > globus pallidus (GP)

      • –

        Thalamus (common in vCJD)

      • –

        Cerebral cortex (most commonly frontal, parietal, and temporal lobes)

        • □

          Cortical involvement often asymmetric

        • □

          Heidenhain variant: Occipital lobe

        • □

          Brownell-Oppenheimer: Cerebellum

    • May involve only peripheral cortex

      • –

        Cortical involvement often asymmetric

      • –

        Primary sensorimotor cortex relatively spared

    • White matter (WM) usually not involved

  • Size: Slight decrease (atrophy)

  • Morphology: Hyperintense T2 signal conforms to outline of BG and gyriform pattern in cortex

CT Findings

  • NECT: Usually normal

    • May show rapidly progressive atrophy and ventricular dilatation on serial CT

    • Serial CT illustrates atrophy progression

MR Findings

  • T1WI

    • Normal

    • GP hyperintensity reported in sporadic CJD (sCJD)

  • T2WI

    • Hyperintense signal in BG, thalami, cortex

    • Cerebral atrophy

    • With time, hyperintense foci may develop in WM

  • FLAIR

    • 2 signs seen in 90% of vCJD but can also occur in sCJD

      • –

        ” Pulvinar “ sign: Bilateral symmetrical hyperintensity of pulvinar (posterior) nuclei of thalamus

      • –

        ” Hockey stick “ sign: Symmetrical pulvinar and dorsomedial thalamic nuclear hyperintensity

    • Periaqueductal GM hyperintensity

    • Cortical hyperintensity (common in sCJD)

  • DWI

    • Progressive hyperintensity in striatum and cortex

    • Gyriform hyperintense areas in cerebral cortex (“cortical ribbon” sign )

      • –

        Correspond to localization of periodic sharp-wave complexes on EEG

    • DWI hyperintensity may disappear late in disease

  • T1WI C+: No enhancement of lesions

You're Reading a Preview

Become a Clinical Tree membership for Full access and enjoy Unlimited articles

Become membership

If you are a member. Log in here

Related Posts