Publications by authors named "Hanene Ben Rhouma"
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient.
Parkinsonism Relat Disord
October 2024
Article Synopsis
- - Dopa-responsive dystonia (DRD) is a genetic disorder characterized by symptoms similar to Parkinson's disease and dystonia, caused by changes in the GCH1 gene affecting dopamine production.
- - This case report is unique as it connects childhood-onset DRD with amyotrophic lateral sclerosis (ALS), indicating a potential link between these two conditions.
- - The findings suggest that the diverse genetic backgrounds in the North African population might play a role in the occurrence of multiple related disorders.
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortical dysplasia. Germline pathogenic variants are typically heterozygous and inactivating. We describe a novel phenotype caused by germline biallelic missense variants in DEPDC5.
View Article and Find Full Text PDFBackground: Status Dystonicus is a rare complication of dystonia. It is a life threatening disorder that needs urgent treatment.The aim of this study is to describe clinical features, management and follow up of children with Status Dystonicus.
View Article and Find Full Text PDFParkinsonism is a rare complication of encephalitis in childhood. Association to an isolated involvement of substantia nigra is exceptional. Mechanisms of nigral cells neurotropism remain hypothetic.
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