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Prion Disease

Dementias Transmissible


Presentation

  • Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader.[ncbi.nlm.nih.gov]
Fatigue
  • Symptoms Symptoms of prion diseases include: Rapidly developing dementia Difficulty walking and changes in gait Hallucinations Muscle stiffness Confusion Fatigue Difficulty speaking Diagnosis Prion diseases can only be confirmed by taking a sample of[columbianeurology.org]
  • They may include: Rapidly developing dementia Difficulty walking and changes in gait Personality changes and impaired memory Depression Muscle stiffness Confusion Fatigue Difficulty speaking Types of prion diseases Creutzfeldt-Jakob Disease has several[ohsu.edu]
  • She initially had fatigue and gait instability. She started falling early in the disease course, requiring a walker only 6 months after symptom onset and becoming wheelchair dependent a few months later.[jamanetwork.com]
Difficulty Walking
  • The motor symptoms of vCJD (stumbling, falls and difficulty walking) also tend to appear earlier in vCJD than in classic CJD.[memory.ucsf.edu]
  • Patients may also experience: Involuntary muscle movements Confusion Difficulty walking Mood changes Prion diseases, because they cause spongelike holes in brain tissue, are also called transmissible spongiform encephalopathies.[ohsu.edu]
  • Symptoms Symptoms of prion diseases include: Rapidly developing dementia Difficulty walking and changes in gait Hallucinations Muscle stiffness Confusion Fatigue Difficulty speaking Diagnosis Prion diseases can only be confirmed by taking a sample of[columbianeurology.org]
Anosmia
  • The clinical features (progressive ataxia, dementia and anosmia), the age of onset and the duration of disease were almost identical.[ncbi.nlm.nih.gov]
Nausea
  • Patients require symptomatic therapies directed towards control of nausea, diarrhoea, incontinence, neuropathic pain and postural hypotension.[ncbi.nlm.nih.gov]
Chronic Diarrhea
  • RESULTS: We identified a PRNP Y163X truncation mutation and describe a distinct and consistent phenotype of chronic diarrhea with autonomic failure and a length-dependent axonal, predominantly sensory, peripheral polyneuropathy with an onset in early[ncbi.nlm.nih.gov]
Self-Mutilation
Self Mutilation
Ataxia
  • Two developed symptoms of ataxia, dementia, myoclonus, rigidity, and hemiparesis, and one had a different phenotype with the combination of lower motor neuron deficit, parkinsonism, intellectual decline, and ataxia.[ncbi.nlm.nih.gov]
Confusion
  • The self-propagation of alternative conformations seems to be the common denominator of these "prions," which in future, in order to avoid confusion, may have to be specified either as "neurodegenerative prions" or "infectious prions." 2013 The Authors[ncbi.nlm.nih.gov]
  • Patients may also experience: Involuntary muscle movements Confusion Difficulty walking Mood changes Prion diseases, because they cause spongelike holes in brain tissue, are also called transmissible spongiform encephalopathies.[ohsu.edu]
  • Since the naming system can be confusing, we usually avoid it altogether and simply refer to all of these diseases as prion diseases .[prionalliance.org]
  • Symptoms Symptoms of prion diseases include: Rapidly developing dementia Difficulty walking and changes in gait Hallucinations Muscle stiffness Confusion Fatigue Difficulty speaking Diagnosis Prion diseases can only be confirmed by taking a sample of[columbianeurology.org]
Tremor
  • Kuru constitutes a horizontally transmitted prion disease, which after a lengthy incubation period, presents clinically as a progressive cerebellar ataxia associated with tremors.[ncbi.nlm.nih.gov]
  • Over the course of the disorder, other features may develop, including tremors, spasticity and rigidity, behavioral changes, confusion, and depression.[invitae.com]
  • Her initial examination results were significant for dysarthria, slow saccades, paratonia, bilateral postural tremor of the upper extremities with distal polyminimyoclonus, mild appendicular apraxia, upper and lower limb ataxia, dystonic posturing of[jamanetwork.com]
Mild Cognitive Impairment
  • Most gPrDs either present rapidly with progression of dementia, ataxia, myoclonus, and other motor features leading to death in few months or present more slowly, declining over a few years with mild cognitive impairment, ataxia, or parkinsonism and later[ncbi.nlm.nih.gov]
Bradykinesia
  • The first patient experienced progressive bradykinesia, ataxia, and slurred speech developing over a two-week period. Over the next two weeks, she became mute, spastic, nearly quadriplegic, and unable to stand or sit.[web.archive.org]

Workup

  • He had an unrevealing extensive workup (5 months after symptom onset) for neurometabolic disorders prior to presentation at the Toronto Western Hospital.[jamanetwork.com]

Treatment

Prognosis

  • Treatment and prognosis There is no curative treatment available for any prion disease. Related Radiopaedia articles Neurodegenerative diseases Infections of the central nervous system Promoted articles (advertising)[radiopaedia.org]

Etiology

  • Abstract Human prion diseases are associated with a range of clinical presentations, and they are classified by both clinicopathological syndrome and etiology, with subclassification according to molecular criteria.[ncbi.nlm.nih.gov]

Epidemiology

  • , diagnostics & public health Richard Knight Epidemiology, surveillance & public health Anna Molesworth Diagnosis, epidemiology & public health Robert Will Related Links National CJD Research and Surveillance Unit The Roslin Institute[ed.ac.uk]
  • Here we review the clinical and pathologic features of CWD and its disturbing epidemiology, and discuss features that affect its transmission, including genetic susceptibility, pathogenesis, and agent strain variability.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Combined analysis of complementary multiparameter MR imaging data furthers our understanding of prion disease pathophysiology.[ncbi.nlm.nih.gov]
  • Pathophysiology A unifying feature of all the prionoses is their neuropathology. These illnesses tend to affect the gray matter of the central nervous system (CNS), producing neuronal loss, gliosis, and characteristic spongiform change.[emedicine.com]

Prevention

  • Thus, the propagation of nonneuronal PrPSc is not pathogenic, but arresting the continued conversion of PrPc to PrPSc within neurons during scrapie infection prevents prion neurotoxicity.[ncbi.nlm.nih.gov]
  • We found that depleting endogenous neuronal PrP c in mice with established neuroinvasive prion infection reversed early spongiform change and prevented neuronal loss and progression to clinical disease.[doi.org]

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