Gerstmann-Straussler-Scheinker syndrome

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Gerstmann-Straussler-Scheinker (GSS) syndrome is a neurodegenerative disorder[1] affecting the brain. This leads to conditions such as ataxia and dementia, which includes common symptoms of memory loss and the loss of balance and coordination, respectively. The disease itself is almost always inherited and is very rare; only a few known cases are reported around the world, running down through families[2] due to inheritance. Onset of the disease usually occurs between the ages of 35 and 55. GSS syndrome belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs) or prion diseases.[3]

Causes

GSS is one of few diseases that are caused by the transformation of prion proteins; often due to small changes in its amino acid sequence at a particular codon.  A change in the amino acid sequence from Proline (P) to leucine (L) on codon 102 found in chromosome 20[4], is observed in the prion protein gene (PRNP) of most affected individuals. From current knowledge, this genetic change is usually required for the development of GSS. Genetic testing allows for the diagnosis of this underlying genetic mutation. This involves a blood and DNA sample from a potential patient and examining it in order to attempt to detect this mutated gene at certain codons. If the genetic mutation is present, the patient will eventually be afflicted by GSS, and, due to the genetic or inheritance-based nature of the disease, the offspring of the patient have a much higher risk of inheriting the Proline to Leucine mutation, thus contracting GSS.

Treatment

There is no known cure available GSS, and there are no known treatments to slow the progression of the disease. However, therapies and medication are aimed at treating or slowing down and alleviating the symptoms, which will hopefully lead to an increased quality of life for the patient.

References

  1. 1. National Institute of Neurological Disorders and Stroke (NINDS), Gerstmann-Straussler-Scheinker Disease Information Page, (2007),[Online], Available at: http://www.ninds.nih.gov/disorders/gss/gss.htm. Accessed 3/21/2008, (Last Accessed: 26/11/14)
  2. De Michele G, Pocchiari M, Petraroli R, et al., (August 2003), "Variable phenotype in a P102L Gerstmann–Sträussler–Scheinker Italian family", Can J Neurol Sci 30 (3): 233–6. PMID 12945948
  3. K Hsiao, C Cass, GD Schellenberg, A prion protein variant in a family with the telencephalic form of Gerstmann–Sträussler–Scheinker syndrome, Neurology, 41 (1991), pp. 681–684
  4. L Goldfarb, P Brown, A Vrbovská, An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann–Sträussler–Scheinker family, J Neurol Sci, 111 (1992), pp. 189–194

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