Publications by authors named "Shaimaa Omer M A Taha"
Article Synopsis
- The text discusses hereditary spinocerebellar degenerations (SCDs), which are genetic disorders affecting movement and coordination, including conditions like hereditary spastic paraplegia and cerebellar ataxia.
- Researchers studied 90 Sudanese patients from 38 families using advanced genetic techniques and found that a significant portion (63-73%) received genetic diagnoses, often with childhood-onset symptoms.
- The study highlights the genetic diversity of the Sudanese population and the challenges in identifying causative genes, suggesting a potential for discovering new genes related to SCDs in this group.
Background: CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephalus (OMIM #236600). Studies recently linked heterozygous mutations in CCDC88C to the development of the late-onset spinocerebellar ataxia type 40 (OMIM #616053).
View Article and Find Full Text PDFBackground: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mutations in the DARS2 gene but has never been reported in sub-Saharan Africa so far.
Case Presentation: Two siblings, aged 18 years and 15 years, from a consanguineous family presented with pyramidal signs and symptoms since infancy and developmental delay.