Publications by authors named "Liena Elsayed"

Article Synopsis
  • - Genetic generalized epilepsy (GGE) includes types like childhood absence epilepsy and juvenile myoclonic epilepsy, showing a higher risk of occurrence in first-degree relatives of affected individuals, suggesting a strong genetic component.
  • - Research, including whole exome sequencing from families in Sudan, has identified specific genetic variants linked to GGE, indicating it is genetically diverse and likely influenced by multiple genes rather than a single cause.
  • - The study emphasizes the importance of examining familial cases, as well as using populations with unique genetic backgrounds, to better understand the complex genetics of GGE, reinforcing the idea that it may have oligogenic inheritance patterns.
View Article and Find Full Text PDF
Article Synopsis
  • Chromosome 16p11.2 deletions and duplications are significant genetic variations linked to a range of clinical outcomes, including developmental delays and autism spectrum disorders, with phenotypic differences among individuals.
  • This study identified a de novo recurrent deletion in a Saudi girl, leading to severe cognitive and motor disabilities, alongside rare symptoms like optic atrophy and Dandy-Walker spectrum features.
  • The research aims to enhance understanding of genetic disorders in the MENA region, highlighting the unique genetic variations present despite the rarity of these conditions.
View Article and Find Full Text PDF

ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, impaired intellectual development, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings born from a consanguineous, first-cousin union from Sudan presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.

View Article and Find Full Text PDF

Background: Despite the widespread practice of consanguinity in Sudan, there is a lack of exploration into the community's awareness of its health implications on offspring and their overall attitude towards consanguineous unions.

Aim: This study aimed to evaluate the community's awareness of the possible health adversities of consanguinity on children and assess the effect of knowledge level on the prevailing attitude towards this practice in Sudan.

Methods: From August to December 2018, data were collected from adults aged 18 years and above in five provinces of Sudan regardless of their marital status.

View Article and Find Full Text PDF

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in are known to cause cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.

View Article and Find Full Text PDF
Article Synopsis
  • Heterozygous PRRT2 variants are linked to milder Self-limited Infantile Epilepsy, while homozygous variants are associated with severe conditions like developmental disorders and epilepsy.
  • A study focused on the Sudanese population examined families, including one with three siblings affected by self-limited infantile epilepsy, using whole exome sequencing.
  • Researchers discovered a pathogenic homozygous variant in the PRRT2 gene, suggesting that homozygous PRRT2 variants may also lead to milder forms of epilepsy than previously thought.
View Article and Find Full Text PDF

Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineage, present in all five continents, probably originating in Asia.

View Article and Find Full Text PDF

PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homozygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, motor fluctuation, and non-motor symptoms occur in a lower percentage of cases and usually respond well to levodopa.

View Article and Find Full Text PDF

Introduction: The phospholipase A2 group VI gene (PLA2G6) encodes an enzyme that catalyzes the hydrolytic release of fatty acids from phospholipids. Four neurological disorders with infantile, juvenile, or early adult-onset are associated with PLA2G6 genetic alterations, namely infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), dystonia-parkinsonism (DP), and autosomal recessive early-onset parkinsonism (AREP). Few studies in Africa reported PLA2G6-associated disorders and none with parkinsonism of late adult onset.

View Article and Find Full Text PDF
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.
View Article and Find Full Text PDF

Background: The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gene has been reported to cause autosomal recessive forms of intellectual disabilities in 56 patients from consanguineous and non-consanguineous families around the world.

View Article and Find Full Text PDF

Background: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies have been carried out in this field in Africa and none in Sudan.

Materials And Methods: We collected DNA from 172 Sudanese individuals (90 cases, 82 controls) who donated saliva for DNA extraction (mean age of onset: 40.

View Article and Find Full Text PDF

Pontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance imaging (MRI). The disease has been described in only twenty-one patients from ten Turkish families with a founder missense pathogenic variant in the gene involved in tRNA processing and maturation. We analyzed three siblings from a consanguineous Sudanese family who presented with intellectual disability, dysmorphic features, developmental delay, regression of milestones, microcephaly, epilepsy, extrapyramidal signs, mild pontine, and cerebellar atrophy.

View Article and Find Full Text PDF

Background: Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual difficulties as well as difficulties in conceptual, social, and practical areas of living. Several genetic and nongenetic factors contribute to its development; however, its most severe forms are generally attributed to single-gene defects. High-throughput technologies and data sharing contributed to the diagnosis of hundreds of single-gene intellectual disability subtypes.

View Article and Find Full Text PDF

Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome which starts typically in the lower limbs. They can present as pure or complex forms with all classical modes of monogenic inheritance reported. To date, there are more than 100 loci/88 spastic paraplegia genes (SPG) involved in the pathogenesis of HSP.

View Article and Find Full Text PDF
Article Synopsis
  • - Genetic generalized epilepsies (GGE), including various types such as childhood absence epilepsy and juvenile myoclonic epilepsy, are influenced by multiple genes, making it hard to pinpoint specific genetic causes.
  • - A study focused on a Sudanese population used whole-exome sequencing to identify genetic variants in 40 GGE patients from 20 families and found several rare missense variants potentially linked to the condition.
  • - The research indicated that certain genetic variants may play a role in the severity of GGE symptoms and established a connection between these variants and different GGE phenotypes, suggesting specific susceptibility genes.
View Article and Find Full Text PDF

Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare form of leukodystrophy characterized by macrocephaly, epilepsy, spasticity, and slow mental deterioration. Genetic studies of MLC are lacking from many parts of the world, especially in Sub-Saharan Africa. Genomic DNA was extracted for 67 leukodystrophic patients from 43 Sudanese families.

View Article and Find Full Text PDF

Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid metabolism; but still 40% of the patients are undiagnosed. Our goal was to identify the disease-causing variants in Sudanese families excluded for known genetic causes and describe a novel clinico-genetic entity.

View Article and Find Full Text PDF

PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic missense and stop-gain PRUNE1 variants were identified in its DHH and DHHA2 phosphodiesterase domains. Conversely, a single splice alteration was previously reported.

View Article and Find Full Text PDF

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 PDF

Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic quadriplegia and cognitive dysfunction. Genetic studies reported various mutations in the gene that resulted in hyperargininemia due to a complete or partial loss of arginase activity.

View Article and Find Full Text PDF

Hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders characterized by progressive lower limb weakness and spasticity as core symptoms of the degeneration of the corticospinal motor neurons. Even after exclusion of infectious and toxic mimickers of these disorders, the definitive diagnosis remains tricky, mainly in sporadic forms, as there is significant overlap with other disorders. Since their first description, various attempts failed to reach an appropriate classification.

View Article and Find Full Text PDF

Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia with elongated cerebellar peduncles leading to the molar tooth sign. While the malformation is reminiscent of bilateral frontoparietal polymicrogyria (BFPP), the phenotype is more severe than previously reported and also includes features of Joubert syndrome (JBTS).

View Article and Find Full Text PDF

Background: 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.

View Article and Find Full Text PDF