Hacked yakisikLi ,Dj_MmM© CaprazAtes.Org

Fatal Familial Insomnia in my family

I have read the article on the Italian family with FFI and believe my family may have it or some version of it. I myself stopped sleeping in 1994. I have to take heavy medication to get any sleep and then it's only minimal. I tried to sleep without medication once in the 90's and I was awake for three days even though I was very ill. I have been totally disabled since 1995 because of numerous health issues. I have had a sleep study done in the last few months. The result showed that I never actually achieved full sleep even though I was taking sleep medication. I do forget the stages of sleep that my Dr. Schwarz here in Oklahoma City referred to as me not attaining. It was a problem with my grandmother, my mother, and some of her sisters. Now my 36 year old daughter is starting to experience the same thing. I am 58 years old. How do I go about getting tested for this and would there be a possiblity of getting into a study on this?

A Possible Case Of FFI?

Dear Afiff:

Greetings. I am a 43 year old Italian-American male who has been experiencing severe insomnia symptoms for several years. Sleeping disorders it seems are quite common in my family tree.

My grandmother on my mother's side is believed to have succumbed to a mysterious illness many many years ago in the state of PA here in the USA. Her maiden name was Deyero, she was either of Czech or Russian stock and she married Silvio Benini, my grandfather.

My mother Sidonia as well always had trouble sleeping although I do not know her fate since my parents were separated when I was quite young.

Do you know of a special sleep center here in Southern California in the US where I can be tested for the gene mutation that causes the disease? If I am a carrier, then I would like to know it so that I can fight this.

I can be reached at the E mail address ef-1st@excite.com. Please help me research this dreaded ailment. Even if disease free I would like to volunteer my help for this worthy cause.

Most Sincerely,

Enrico Festa
Studio City, CA USA

FFI: CLINICAL FEATURES

The patients displayed severe disturbances of sleep. Insomnia was an early symptom, followed in later stages by oneiric episodes with enacted dreams. Later stages were characterized by stupor and coma before death.

BIOLOGIA MOLECOLARE DELL'INSONNIA FAMILIARE FATALE (FFI)

Gli studi di biologia molecolare sul materiale autoptico e umorale della casistica sono stati compiuti dal Prof. PierLuigi Gambetti della Case Western Reserve University di Cleveland. La presenza di degenerazione spongiforme nella corteccia cerebrale ha portato all’identificazione di un’anormale isoforma di proteina prionica (PrP) nell’encefalo dei soggetti con FFI. La PrP è codificata da un gene (PRNP) situato nel braccio corto del cromosoma 20.

CLINICA E NEUROPATOLOGIA DELL'INSONNIA FAMILIARE FATALE (FFI)

L'insonnia è il sintomo prevalente, seguito, negli stadi successivi, da episodi onirici sempre più frequenti con sogni recitati. L'evoluzione è verso lo stupore e il coma.

THE HISTORY OF FATAL FAMILIAL INSOMNIA, A PRION DISEASE

In 1973 a 48-year old woman came under my observation. She had a complex and strange neurological syndrome which caused death in 8 months. She died in a University Clinic. The results of the autopsy revealed nothing. Five years later the same pathology involved a sister.

STORIA DELL'INSONNIA FAMILIARE FATALE

Nel 1973 venne alla mia osservazione una donna di 48 anni. Astenia, stato depressivo, turbe dell'equilibrio e stipsi tenace erano i sintomi riferiti. Fu ricoverata in una Casa di Cura e dimessa 2 settimane dopo con diagnosi di: " sindrome di Menière. Neurosi ansioso-depressiva". Il riposo e la terapia consigliata non apportarono alcun miglioramento. Presto si manifestarono ...