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Medicine and Health
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Studio genetico di una famiglia di origini Istrorumena con Sclerosi Laterale Amiotrofica a trasmissione autosomica dominante

Tesi di specializzazione della Dott.ssa Antonietta Gemma

Relatore: Prof. Giuseppe Cazzato
Correlatori: Prof. Antonio Amoroso,  Dott. Giovanni Masč

Marisa Ciceran's background notes

In April 1998, an Istrian colleague sent me a copy of an email request that he had received from medical researchers in Trieste who were seeking information about a specific family in New York City that had emigrated to the U.S.A. in the late 1940s and that was stricken multiple times by ALS, an incurable and always fatal disease. They did not identify the family by name, but by their description I knew immediately who they meant. As it happened, they were the next door neighbors (and probable distant relatives) of my grandparents' home in hamlet in the Brdo region. My own paternal great-grandparents there were members of the same clans. Long before hearing of the ALS research in Trieste and in New York, I had direct knowledge and involvement with the families afflicted, and I also suspected that my father's only sister (deceased in 1990) and the oldest of her seven children suffered from the same affliction, neither of which was properly diagnosed. Yet another reason for me being to certain on the families the researchers sought is that many years earlier I personally referred that same family to a neurologist in Manhattan, Leon Root, then a young doctor, who identified ALS in the two family members I knew and who since passed away from their illness.

After several additional correspondences with the researchers, I attempted to put them in direct telephone contact with the surviving family members, but they declined the invitation to cooperate with the researchers despite already knowing that there was a genetic predisposition in their own family - falsely believing that the disease afflicted every other generation - despite their personal knowledge that their mothers (two sisters) and their own mother were all victims of ALS, as well as other relatives who were then living in Istria, Rijeka (Fiume), Trieste, and elsewhere.

On July 19, 1998, I met in person with Ms. Gemma and her colleague at the Brdo Rededication Celebration in Istria. At that event, showed me a very large family tree that they had compiled of all the families that had been afflicted by ALS in the Brdo region in the 20th century. The numbers of casualties in the different branches and generations was staggering [see the research findings below] and a particular eye-opener for me on that otherwise unbearably hot and unpleasant day for both me and my elderly mother. The revelations did not come as a complete surprise to my mother who knew the family's history going beyond the people that I had known. The best I could do at the time was to introduce the research scientists to my cousin who was married into the family in question.

Tragically, in the ensuing years since that fateful summer of 1998 encounter, the researchers have lost touch and new casualties of ALS and two other rare neurological diseases have been identified - some publicly heralded, others shrouded in mystery and/or unknown to the local Istrian social clubs.

Marisa Ciceran
[Aug. 25, 2010, updated March 7, 2014]

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This page compliments of Marisa Ciceran

Created: Wednesday, August 25, 2010; Last Updated: Monday, March 10, 2014
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