Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review
Consistent with emerging data in GM2 gangliosidoses and other lysosomal storage disorders, this case supports the use of ADLL as a potential symptomatic treatment for progressive cerebellar ataxia in juvenile TSD. ADLL was well tolerated and was associated with clinically meaningful improvements in gait, daily participation, and ataxia scores. These findings add pediatric support to the growing evidence that ADLL may be used safely as symptomatic therapy in TSD-related ataxia.
Authors
- Mehmet Şerif Cansever (ORCID: https://orcid.org/0000-0003-3315-5124)
- Tanyel Zübarioğlu (ORCID: https://orcid.org/0000-0002-7159-4008)
- Ayşe Çiğdem Aktuğlu Zeybek (ORCID: https://orcid.org/0000-0001-7256-0750)
- Ertuğrul Kıykım (ORCID: https://orcid.org/0000-0001-5170-5594)
- Tuğçe Aras Çöl
- Kağan Çalışgan (ORCID: https://orcid.org/0000-0002-8645-5975)
- Hanım Babazade Aghakıshılı
- Elif Isler Soylu
Institutions
- Istanbul University-Cerrahpaşa (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-12-20
- DOI
- https://doi.org/10.1159/000550055
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00