Steroid-induced improvement of neurological signs in ataxia-telangiectasia

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]

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Research projects currently being financed by BabelFAmily

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

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2) Frataxin delivery research project:
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.

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