Steroid-induced improvement of neurological signs in ataxia-telangiectasia
patients.

Broccoletti T, Del Giudice E, Amorosi S, Russo I, Di Bonito M, Imperati
F, Romano A, Pignata C.
Department of Pediatrics, Federico II University, Naples, Italy.

A recent clinical observation reported on a dramatic improvement of neurological
symptoms following short-term betamethasone administration in a child affected
with ataxia-teleangiectasia (A-T). The aim of this study was to extend this
observation to additional A-T patients followed at a single Immunodeficiency
Center. Six consecutive patients (three males; mean age 16.3 years, range 5-30
years) were enrolled into this monocentric before-after trial. A cycle of oral
betamethasone at the dosage of 0.1 mg/kg/day was administered for 10 days. The
neurological evaluation was performed through the Scale for the Assessment and
Rating of Ataxia. Overall, five of the six patients exhibited a clear
amelioration of the neurological performances. Only in two patients, a slight
amelioration persisted 7 days after the therapy withdrawal, whilst in the other
patients the score reached approximately the pre-treatment value at the end of
the therapy. Twenty-eight of the 46 evaluated neurological items (60%) improved
during therapy. The speech disturbance, finger chase and nose-finger test showed
the more significant improvement. The clinical amelioration was inversely
correlated with the level of cerebellum atrophy, as revealed by the magnetic
resonance. Our data indicate that neurological signs in A-T are susceptible of
beneficial pharmacological intervention even years after the disease onset.

PMID: 18290844 [PubMed - indexed for MEDLINE]

The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

Paperback and Kindle versions for "The legacy of Marie Schlau" available for sale at Amazon now!

https://www.amazon.com/Legacy-Marie-Schlau-collective-Friedreichs-ebook/dp/B01N28AFWZ

 

Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:

https://www.irbbarcelona.org/en/news/international-patient-advocates-partner-to-fund-spanish-gene-therapy-project-to-treat

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:

https://www.irbbarcelona.org/en/news/new-research-front-to-tackle-friedreichs-ataxia
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.

 

 

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