haloperidol/trihexyphenidyl / Generic mfg. - LARVOL DELTA

A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism. (PubMed, J Pediatr Genet) - "The child was treated with a low protein diet, levetiracetam, clonazepam, trihexyphenidyl, haloperidol, calcium supplement, calcitriol, and sodium benzoate; some improvement in clinical and biochemical parameters was noted on follow-up. Conclusion  This is a novel association of NCL-1 with VDDR-1 associated with complex-1 mitochondrial deficiency which has previously not been reported in the literature."

Journal • CNS Disorders • Developmental Disorders • Dystonia • Endocrine Disorders • Epilepsy • Genetic Disorders • Inherited Retinal Dystrophy • Lysosomal Storage Diseases • Metabolic Disorders • Movement Disorders • Muscular Atrophy • Ocular Inflammation • Ophthalmology • Rare Diseases • Retinal Disorders • Retinitis Pigmentosa • PPT1

Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series. (PubMed, Eur J Neurol) - "The management of chorea in individuals with NKX2-1-RD presents significant heterogeneity and lack of clarity. While the available evidence suggests that methylphenidate may be effective in improving chorea symptoms, the findings should be interpreted with caution due to the limitations of the studies reviewed. Nonetheless, more rigorous and comprehensive studies are necessary to provide sufficient evidence for clinical recommendations."

Journal • Review • CNS Disorders • Movement Disorders • Rare Diseases

Treatment of chorea in NXK2-1-related disorders: A Systematic Review (EPNS 2023) - "There were 22 reported chorea treatments: L-dopa (30), Tetrabenazine (21), Carbidopa/Levodopa (8), Clonazepam (7), Methylphenidate (7), Carbamazepine (4), Topiramate (4), Trihexyphenidyl (3), Haloperidol (2), Propranolol (2), Risperidone (2), Valproate (2), No clear benefits of L-Dopa, Tetrabenazine, Carbidopa/Levodopa, or Clonazepam treatment were described (improvement: 11/24, 9/17, 4/8, and 4/7, respectively), and variable adverse effects were reported (4/30, 12/21, 1/8, and 2/7, respectively). Chorea treatment for NKX2-1-RD patients is heterogeneous and poorly defined. The percentage of patients treated with methylphenidate who experience improvement in chorea is greater than that of patients treated with other medications. However, due to poor methodological quality, additional treatment studies may be required to recommend therapeutic options."

Review • Anorexia • CNS Disorders • Movement Disorders • Rare Diseases

Drug repositioning based on the heterogeneous information fusion graph convolutional network. (PubMed, Brief Bioinform) - "We find that DRHGCN achieves high performance (the average AUROC is 0.934 and the average AUPR is 0.539) in four benchmark datasets, outperforming the current approaches. Importantly, we conducted molecular docking experiments on DRHGCN-predicted candidate drugs, providing several novel approved drugs for Alzheimer's disease (e.g. benzatropine) and Parkinson's disease (e.g. trihexyphenidyl and haloperidol)."

Heterogeneity • Journal • Alzheimer's Disease • CNS Disorders • Movement Disorders • Parkinson's Disease • Rare Diseases