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From: TSS ()
Subject: Creutzfeldt-Jakob disease in Hungary
Date: February 15, 2006 at 10:16 am PST

Creutzfeldt-Jakob disease in Hungary

Gábor G. Kovács, Katalin MajtényiDepartment of Neuropathology, National Institute of Psychiatry and Neurology, Budapest, Hungary

Folia Neuropathol 2005; 43 (4): 279-285

A b s t r a c t

Human prion diseases or transmissible spongiform encephalopathies are progressive fatal neuropsychiatric diseases.

In addition to the evaluation of clinical features, a common diagnostic procedure includes examination of the protein

14-3-3 in the cerebrospinal fluid, performing EEG to detect periodic sharp wave complexes with triphasic morphology,

and cranial MRI to demonstrate high signal intensity in the basal ganglia or thalamus. The definite diagnosis requires

a neuropathological examination. The analysis of the prion protein gene (PRNP) is initiated mainly after suspicion of

a positive family history or an atypical presentation. In Hungary collecting data and setting up the neuropathological

diagnosis in suspect prion disease cases originates from the late 1960s. Systematic surveillance was established in

1994 and since 2001 reporting of Creutzfeldt-Jakob disease has been compulsory. According to our database, the

incidence of genetic prion disease is increased in Hungary. The most frequent mutation in the PRNP is at codon 200.

This might be linked to migration from the Slovakian focus. Acquired forms of prion disease were not detected in our

country. The surveillance system is based on referrals from clinicians and pathologists and the aim is to perform the

neuropathological examination and analysis of the PRNP on the majority of suspect cases.

Key words: Creutzfeldt-Jakob disease, prion protein, E200K mutation.

Original article

Introduction ...

snip...

Conclusions

The incidence of genetic PrD is increased in

Hungary. The most frequent mutation in the PRNP is

at codon 200. This might be linked to historical

migration from the Slovakian focus. Acquired forms

of PrDs were not detected in our country. The

Surveillance system is based on referrals from

clinicians and pathologists and the aim is to perform

a post mortem examination and analysis of the

PRNP on the majority of suspect cases.

snip...

full text;

http://www.termedia.pl/showpdf.php?article_id=5371&filename=Creutzfeldt-Jakob%20disease.pdf&priority=1tss




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