Publications by authors named "Huda Shujaa Aldeen"
Article Synopsis
- Biallelic variants in the OGDHL gene, linked to various neurological disorders, were investigated to better understand their gene-disease relationship through a new patient cohort and various genetic analyses.
- Researchers utilized global sequencing data and zebrafish models to explore the functional effects of these variants, revealing significant clinical variability among affected individuals.
- Findings indicated that OGDHL is not a straightforward Mendelian gene due to the presence of alternative allele interactions and compensatory mechanisms with related genes, suggesting a more complex role in neurodevelopmental disorders.
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional trials. ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity and a variety of other neurological symptoms. While prior reports, often in populations with high rates of consanguinity, have established a general phenotype, there is a lack of systematic investigations and a limited understanding of age-dependent manifestation of symptoms.
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