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

Journal: Parkinsonism & related disorders

Volume: 130

Issue: 

Year of Publication: 

Affiliated Institutions:  Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, rue des orangers Manouba, , Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, , Rue Djebel Lakhdhar, La Rabta, , Tunis, Tunisia; Neurology Department, LRSP, Razi University Hospital, rue des orangers Manouba, , Tunis, Tunisia. Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, rue des orangers Manouba, , Tunis, Tunisia; Neurology Department, LRSP, Razi University Hospital, rue des orangers Manouba, , Tunis, Tunisia. Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, rue des orangers Manouba, , Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, , Rue Djebel Lakhdhar, La Rabta, , Tunis, Tunisia; LRSP, Department of Child and Adolescent Neurology, University of Tunis El Manar, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia. Istituto Auxologico Italiano, IRCCS, Department of Neurology and Laboratory of Neuroscience, Piazzale Brescia , , Milan, Italy; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi , , Segrate, Milan, Italy. Istituto Auxologico Italiano, IRCCS, Department of Neurology and Laboratory of Neuroscience, Piazzale Brescia , , Milan, Italy; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Via F. Sforza , , Milan, Italy. Faculty of Medicine of Tunis, University of Tunis El Manar, , Rue Djebel Lakhdhar, La Rabta, , Tunis, Tunisia; Soukra Medical Center, Tunis, Tunisia.

Abstract summary 

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.

Authors & Co-authors:  Kacem Imen I Sghaier Ikram I Ben Rhouma Hanene H Ratti Antonia A Ticozzi Nicola N Silani Vincenzo V Gouider-Khouja Neziha N Gouider Riadh R

Study Outcome 

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Statistics
Citations : 
Authors :  8
Identifiers
Doi : 10.1016/j.parkreldis.2024.107171
SSN : 1873-5126
Study Population
Male,Female
Mesh Terms
Other Terms
Amyotrophic Lateral Sclerosis;Dopa-responsive dystonia (DRD);Genetics;Oligogenic;Tunisia
Study Design
Case Study
Study Approach
Country of Study
Tunisia
Publication Country
England