Diagnosis of FFI

There are many techniques used in the diagnosis of FFI and include:
  • Clinical Observation of the patients presenting symptoms.
  • Neurological and neurophysical examinations which are conducted by a neurologist including analytical measurements of the patients sleep wake cycle by electroencephalography (EEG).
  • FDG-PET scan (also known as a 2-fluoro-2-deoxy-D-glucose positron emission topography) is a recently developed technique which measures the regional cerebral metabolic rate for glucose (rCMRglc) of patients and is a way of measuring the neuronal activity in particular discrete areas of the brain.
  • Traditional MRI (magnetic resonance imaging) scans can be used to detect the physical lesions caused by FFI in vivo.
  • Protein analysis can be used to detect any abnormal proteins in the cerebralspino fluid secreted by the neural destuction due to FFI.
  • Genotyping can be used to locate the specific FFI mutation in the prion molecule. This technique is also a very important preventative technique of FFI which is used in gene counselling.
  • Histopathology can be used to analyse the physical spongiform lesions caused by FFI and involves the sectioning of brain tissue (usually the thalamus). Note that this technique is only carried out post-mortem and is mainly used confirm the cause of the death and for FFI research.

These cerebral histopathology images illustrate distinct and significant plaques consistent with the prion disease FFI. Spongiform changes (A) are detectable in a focus of frontal cortex and (C) is discrete in thalamic nuclei. Immunocytochemistry depicts (B) cortical astrogliosis (or proliferation of the CNS supporting cells) with bilaminar accentuation and (D) prominent astrogliosis in the thalamus.

Potential Treatments for FFI

Although the ultimate goal for researchers is to address the infectious and destructive prion, the present treatment for FFI is mainly pallative and aims to decreases the severity of symptoms and give sufferers of the this debilitating disease some sort of quality of life.

Despite being labelled as an 'insomnia', FFI patients repondly poorly to conventional 'sleeping' drugs such as sedatives and benzodiazepines. In fact if administered to patients suffering from FFI, these drugs may actually accenuate the insomnia-related symptoms

Along with the extensive research underway to try and find a cure for FFI, there are also efforts aimed in finding effective preventative treatments to ensure that the symptoms of FFI never manifest themselves at all, and this would obviously be the best outcome for patients. A study conducted by Cortelli et al. (2008) suggest that there may be a time interval of 13 to 21 months prior to the clinical disease onset which may allow for potential future successful preventative treatments to be developed.

This is an image taken by a positron emission topography (PET) scan. A particular type of PET scan known as a FDG-PET scan is extremely useful in the diagnosis of FFI.

Picture Sources:

The pictures presented on this page was obtained from the following electronic sources: http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1028

Reference: Techniques for Diagnosing FFI and potential Treatments

Cortelli, P, Perani, D, Montagna, P, Gallassi, R, Tinuper, P, Provini, F, Avoni, P, Ferrillo, F, Anchisi, D, Moresco, R.M, Fazio, F, Parchi, P, Baruzzi, A, Lugaresi, E and Gambetti, P 2006, ‘Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and FDG-PET studies’, Brain, vol. 129, pp. 668-675, viewed 13 August 2009 from CINAHL database.