Prion Diseases

Contributed by: Valdez, Dennis Bryan A.

CREUTZFELDTJAKOB DISEASE (CJD)

- a rare, progressive, cerebellar disorder
- It destroys brain tissue, making it spongy and causing progressive loss of mental
functioning and motor control.
- The disease commonly arises in adults between the ages of 40 and 70.
- Patients usually die within a year. There is no known cure. The disease is caused by a
prion that builds up in neurons.

Cause:
Prion:
proteinaceous infectious particle that lacks nucleic acid
- bacterial nor fungal nor viral and contains no genetic material. Prions have been held
responsible for a number of degenerative brain diseases
Signs & Symptoms:
rapid progressive deterioration of cognitive processes and
memory (dementia), resulting in confusion and disorientation,
impairment of memory control, personality disintegration,
agitation, restlessness, and other symptoms and findings.
neuromuscular abnormalities such as muscle weakness and
loss of muscle mass (wasting); irregular, rapid, shock-like muscle spasms (myoclonus);
and/or relatively slow, involuntary, continual writhing movements (athetosis), particularly
of the arms and legs.
loss of physical and intellectual functions, a state of unconsciousness (coma), and
increased susceptibility to repeated infections of the respiratory tract (e.g., pneumonia).

 life-threatening complications may develop less than a year after the disorder becomes
apparent.

Treatments:
There is no treatment that can cure or control CJD. Current treatment is aimed at
alleviating symptoms and making the patient as comfortable as possible.
Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate
may help relieve involuntary muscle jerks.

References:
Creutzfeldt-Jakob disease.
http://www.britannica.com.ph/medicine/creutzfeldt-jakob-disease-361874.
Creutzfeldt-Jakob disease
http://www.webmd.com/brain/creutzfeldt-jakob-disease
NINDS Creutzfeldt-Jakob Disease Information Page, National Institute of Neurological Disorders
and Stroke. http://www.ninds.nih.gov/disorders/cjd/cjd.htm
Voet, D. & Voet, J. G. (2011). Biochemistry, 4th Ed. New Jerrsey: John Wiley & Sons, Inc.

GERSTMANN-STRUSSLER-SCHEINKER
-

rare, hereditary, neurodegenerative condition.

most people develop the disorder between the ages of 35 and 55, but there have been
cases in which the onset occurred during the patients mid-twenties.
the genetic transmission of the disease is, in most cases, autosomal dominant

Cause:
Caused by prions, a class of pathogenic proteins highly resistant to proteases.
(Genetic) change in codon 102 from proline to leucine on chromosome 20, has been
found in the prion protein gene (PRNP) of most affected individuals

Signs & Symptoms:

-

progressive neurologic degeneration over a long period of time; this may range from 2 to
10 years.
clumsiness and an unsteady gait
slurred speech, involuntary movements of the eyes, or nystagmus, spasticity, and visual
problems which eventually lead to blindness.
Dementia (memory impairment as a sign of cognitive decline
Learning difficulties, speech impediment, problems with the processing of information,
and reduction in attention span are other clinical signs and symptoms of this medical
condition
emotional instability such as aggressive behavior, irritability, apathy, and withdrawal.

Treatment:

 There is no cure for GSS, nor are there any known treatments to slow progression of the
disease. Current therapies are aimed at alleviating symptoms and making the patient as
comfortable as possible.

References:
Collins, S., McLean, C., and Masters, C. (2001). Gerstmann-Strussler-Scheinker syndrome,
fatal familial insomnia, and kuru: A review of these less common human transmissible
spongiform encephalopathies. Journal of Clinical Neuroscience, 8, 387-397.
De Michele G, Pocchiari M, Petraroli R, et al. (August 2003). "Variable phenotype in a P102L
GerstmannStrusslerScheinker Italian family". Can J Neurol Sci 30 (3): 2336.
Voet, D. & Voet, J. G. (2011). Biochemistry, 4th Ed. New Jerrsey: John Wiley & Sons, Inc.