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Rare familial form of subacute spongiform encephalopathy resulting in widespread degeneration of the nervous system, usually beginning in the fourth or fifth decade of life. Special consideration must be given to potential contamination of the attending personnel, other patients, and medical materials.

Amyloid Dependent Subacute Spongiform Encephalopathy; Cerebellar Ataxia-Progressive Dementia Syndrome; Cerebellar Ataxia with Progressive Dementia and Amyloid Deposits in CNS; Cerebral Amyloidosis with Spongiform Encephalopathy Syndrome; Gerstmann Syndrome I; Gerstmann-Sträussler-Scheinker Disease (or Syndrome); Prion Dementia; Sträussler Disease (or Syndrome); Subacute Spongiform Encephalopathy, Gerstmann-Sträussler Type.

Rare; incidence estimated to be 1-10:100,000,000 in the general population.

Autosomal dominant with point mutation of the prion protein gene (20 different mutations of the human PrP gene are reported). Gene map locus is 20pter-p12.

Evidence indicates this disorder is caused by mutation in the prion protein gene (PRNP). PrPC is a normal glycoprotein that seems to have a central role in the pathogenesis of transmissible subacute spongiform encephalopathies. The isoform, which is associated with the disease, is the result of a conformational change of PrPC and designated PrPSc. Mutations in the 102nd codon of the PrP gene can produce neurodegeneration, which is the main feature of the prion diseases.

Classified with other transmissible spongiform encephalopathies that represent a group of neurodegenerative diseases with lethal outcome. The differential diagnosis between Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler disease (GSD) has proved to be difficult because of the clinical similarities. However, it differs histologically from CJD by the presence of Kuru-type amyloid plaques and numerous multicentric, floccular plaques in the cerebral and cerebellar cortex, basal ganglia, and white matter. Whereas only 5 to 15% of CJD cases are familial, most cases of GSD are familial. In addition to spinocerebellar and corticospinal tract degeneration, extensive amyloid plaques are found throughout the CNS, and in many cases spongiform degeneration is found. An abnormal isoform of prion protein (PrP) in the brain can be detected by Western blotting and immunohistochemistry.

Characterized by cerebellar ataxia, progressive dementia, and absent reflexes in the legs. Onset is usually in the fifth decade of life. In the early phase, ataxia is predominant. Dementia develops later. Atactic symptoms, dysarthria, and personality changes characterize the clinical course of this disorder. Pyramidal, pseudobulbar, or cerebellar symptoms (usually preceding dementia), age of onset, course, and familial character of the disorder distinguish it among presenile dementias. The disease course ranges from 2 to 10 years. There is a progressive decline of physical and intellectual function until death.

Prions are highly resistant to traditional disinfection and sterilization processes. Patients known to have, or suspected of having, transmissible prion diseases, such as CJD and GSD, should be managed in the hospital ward with precautionary measures similar to those used for patients with hepatitis B or acquired immune deficiency syndrome.

Unlike iatrogenic CJD, there have been no cases of GSD as a result of iatrogenic spread. ...

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