Brueggemann, Adriana; Bicvic, Antonela; Goeldlin, Martina; Kalla, Roger; Kerkeni, Hassen; Mantokoudis, Georgios; Abegg, Mathias; Kolníková, Miriam; Mohaupt, Markus; Bremova-Ertl, Tatiana (2022). Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia. Journal of child neurology, 37(1), pp. 20-27. Sage 10.1177/08830738211028394
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BACKGROUND
There is no authorized treatment for ataxia telangiectasia (AT). As cerebellar symptoms of storage diseases were improved by acetyl-DL-leucine (ADLL), the authors hypothesized a symptomatic and disease-modifying effect in AT upon supplementation with ADLL.
METHODS
Six patients were treated with ADLL 3 g/day for 1 week followed by 5g/day for 3 weeks to 1 year. Cerebellar ataxia was evaluated by validated scales. Gaze-holding, saccades and smooth pursuit were examined by video-oculography. Measurements took place at baseline, at 1 month of therapy in 5 patients, and after 6 and 12 months in 1 patient.
RESULTS
The Scale for Assessment and Rating of Ataxia changed from the baseline, mean, (SD, min-max) of 22.1 (5.88, 11-28.5) to 18 points (5.39, 8.5-23.5) after 1 month on medication (P = .0028). All patients demonstrated gaze-holding deficits; 3 patients had central-position downbeat-nystagmus. Mean slow-phase velocity of this nystagmus with the gaze straight-ahead changed from 5.57°/s (1.8, 3.53-6.99) to 4.7°/s (0.79, 3.97-5.56) after 1 month on treatment (1.35, -2.56-4.17) (P = .046).
INTERPRETATION
ADLL may improve ataxia and ocular stability in AT patients, while the molecular basis still remains to be elucidated. A multicentric, rater-blinded, phase II trial currently investigates the effects of acetyl-L-leucine in AT (NCT03759678).
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology 04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology 04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ear, Nose and Throat Disorders (ENT) |
UniBE Contributor: |
Bicvic, Antonela, Göldlin, Martina Béatrice, Kalla, Roger, Kerkeni, Hassen, Mantokoudis, Georgios, Abegg, Mathias, Brémovà-Ertl, Tatiana |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1708-8283 |
Publisher: |
Sage |
Language: |
English |
Submitter: |
Chantal Kottler |
Date Deposited: |
24 Nov 2021 08:41 |
Last Modified: |
21 Dec 2022 11:29 |
Publisher DOI: |
10.1177/08830738211028394 |
PubMed ID: |
34620022 |
Uncontrolled Keywords: |
ataxia cerebellum neurodevelopment pediatric quality of life |
BORIS DOI: |
10.48350/160843 |
URI: |
https://boris.unibe.ch/id/eprint/160843 |
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