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From: TSS ()
Subject: High incidence of genetic human TSE in ITALY
Date: May 10, 2005 at 12:07 pm PST

-------- Original Message --------
Subject: High incidence of genetic human TSE in ITALY
Date: Mon, 9 May 2005 17:06:37 -0500
From: "Terry S. Singeltary Sr."
Reply-To: Bovine Spongiform Encephalopathy
To: BSE-L@aegee.org


##################### Bovine Spongiform Encephalopathy #####################

NEUROLOGY 2005;64:1592-1597
© 2005 American Academy of Neurology

High incidence of genetic human transmissible spongiform
encephalopathies in Italy

A. Ladogana, MD, M. Puopolo, Dstat, A. Poleggi, PhD, S. Almonti, MD, V.
Mellina, MD, M. Equestre and M. Pocchiari, MD

From the Department of Cell Biology and Neurosciences, Istituto
Superiore di Sanità, Rome, Italy.

Address correspondence and reprint requests to Dr. Maurizio Pocchiari,
Department of Cell Biology and Neurosciences, Istituto Superiore di
Sanità, Rome, Italy, Viale Regina Elena 299, 00161 Rome, Italy; e-mail:
pocchia@iss.it

Objective: To assess the incidence and mortality rates of genetic
transmissible spongiform encephalopathy (TSE) diseases in Italy.

Methods: The authors have sequenced the prion protein gene (PRNP) in 643
patients referred to the Italian Registry of Creutzfeldt-Jakob disease
(CJD) and related disorders between 1993 and 2002. Crude age- and
sex-specific incidence and mortality rates were calculated. Differences
in morbidity from genetic TSE diseases in the 20 Italian regions were
assessed by the standardized morbidity ratio (SMR).

Results: A total of 130 cases were classified as genetic TSE diseases
with a mean yearly incidence rate of 0.28 cases per million people.
Genetic TSE diseases represent 17.7% of all TSE diseases, including
sporadic, iatrogenic, and variant CJD. The most frequent mutation was
the V210I (n = 54), and the second most common the E200K (n = 42).
Mortality rates for genetic TSE diseases did not increase in any of the
age groups under examination over the 10 years of surveillance. The
analysis of regional distribution of genetic cases by place of birth
revealed that in Campania and Calabria regions the number of genetic TSE
cases was higher than in other regions.

Conclusions: In Italy the incidence of genetic transmissible spongiform
encephalopathy (TSE) diseases is the second highest among European
countries. Genetic analysis is important for a correct classification of
patients with TSE.

------------------------------------------------------------------------

Supported by the Istituto Superiore di Sanità, Ministry of Health, Italy.

Received September 15, 2004. Accepted in final form January 24, 2005.


http://www.neurology.org/cgi/content/abstract/64/9/1592?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&fulltext=cjd&searchid=1115675607093_7683&stored_search=&FIRSTINDEX=0&volume=64&issue=9&journalcode=neurology

TSS

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