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Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
Rapid-onset dystonia-parkinsonism: First African case of ATP1A3 mutation
Hicham El Otmani1, Asmae Sikkal2, Aya Harrati2
1Université Hassan II de Casablanca, Faculté de Médecine et de Pharmacie de Casablanca, Rue tarik Ibn Ziad, Casablanca, 20100, MA, Morocco; Département de Neurologie, CHU Ibn Rochd, Morocco; Laboratoire de Physiopathologie Cellulaire et Moléculaire, Inflammation, Dégénérescence et Oncologie, Morocco.
Abstract:
Rapid-onset dystonia-parkinsonism (RDP), also known as DYT12 dystonia, is a rare neurological disorder caused by a mutations in the ATP1A3 gene. It typically presents with a sudden or rapidly progressive onset of dystonia, parkinsonism, and bulbar symptoms, which tend to stabilize shortly after onset and show minimal to no response to levodopa treatment. We report the first documented case of RDP in Africa, involving a Moroccan patient carrying a novel ATP1A3 mutation. The patient exhibited a partial clinical response to levodopa, challenging the conventional understanding of treatment response. This case broadens the known geographic distribution of the disorder and highlights the divergence in therapeutic response.
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