Dopa-responsive dystonia (DRD) is an autosomal dominant disease with parkinsonian and dystonic symptoms caused by GCH1 gene pathogenic variants affecting dopamine synthesis. The present case report is the first to link DRD with childhood-onset with ALS, suggesting that complex inheritance patterns in the North African population may contribute to multiple disorders.
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient / I. Kacem, I. Sghaier, H. Ben Rhouma, A. Ratti, N. Ticozzi, V. Silani, N. Gouider-Khouja, R. Gouider. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1353-8020. - 130:(2025), pp. 107171.1-107171.3. [10.1016/j.parkreldis.2024.107171]
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient
A. Ratti;N. Ticozzi;V. Silani;
2025
Abstract
Dopa-responsive dystonia (DRD) is an autosomal dominant disease with parkinsonian and dystonic symptoms caused by GCH1 gene pathogenic variants affecting dopamine synthesis. The present case report is the first to link DRD with childhood-onset with ALS, suggesting that complex inheritance patterns in the North African population may contribute to multiple disorders.
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