Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient

Imen Kacem; Ikram Sghaier; Hanene Ben Rhouma; Antonia Ratti; Nicola Ticozzi; Vincenzo Silani; Neziha Gouider-Khouja; Riadh Gouider

doi:10.1016/j.parkreldis.2024.107171

Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient

Parkinsonism Relat Disord. 2025 Jan:130:107171. doi: 10.1016/j.parkreldis.2024.107171. Epub 2024 Oct 16.

Authors

Imen Kacem¹, Ikram Sghaier², Hanene Ben Rhouma³, Antonia Ratti⁴, Nicola Ticozzi⁵, Vincenzo Silani⁵, Neziha Gouider-Khouja⁶, Riadh Gouider¹

Affiliations

¹ Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, 15, Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia; Neurology Department, LR18SP03, Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia.
² Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia; Neurology Department, LR18SP03, Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia.
³ Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, 15, Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia; LR18SP04, Department of Child and Adolescent Neurology, University of Tunis El Manar, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.
⁴ Istituto Auxologico Italiano, IRCCS, Department of Neurology and Laboratory of Neuroscience, Piazzale Brescia 20, 20149, Milan, Italy; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi 93, 20090, Segrate, Milan, Italy.
⁵ Istituto Auxologico Italiano, IRCCS, Department of Neurology and Laboratory of Neuroscience, Piazzale Brescia 20, 20149, Milan, Italy; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Via F. Sforza 35, 20122, Milan, Italy.
⁶ Faculty of Medicine of Tunis, University of Tunis El Manar, 15, Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia; Soukra Medical Center, Tunis, Tunisia.

PMID: 39531950
DOI: 10.1016/j.parkreldis.2024.107171

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.

Keywords: Amyotrophic Lateral Sclerosis; Dopa-responsive dystonia (DRD); Genetics; Oligogenic; Tunisia.

Publication types

Case Reports
Letter

MeSH terms

Adult
Amyotrophic Lateral Sclerosis* / complications
Amyotrophic Lateral Sclerosis* / genetics
Dystonic Disorders* / drug therapy
Dystonic Disorders* / genetics
Female
GTP Cyclohydrolase / genetics
Humans
Male
Tunisia

Substances

GTP Cyclohydrolase
GCH1 protein, human

Supplementary concepts

Dystonia, Dopa-responsive