Saeed Bohlega
A5069130203- Multiple Sclerosis Research Studies
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Botulinum Toxin and Related Neurological Disorders
- Muscle Physiology and Disorders
- Ocular Diseases and Behçet’s Syndrome
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Systemic Lupus Erythematosus Research
- Peripheral Neuropathies and Disorders
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Retinal and Optic Conditions
- Rheumatoid Arthritis Research and Therapies
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Cerebrovascular and genetic disorders
- Metalloenzymes and iron-sulfur proteins
- Polyomavirus and related diseases
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
King Faisal Specialist Hospital & Research Centre
2016-2025
National University of Malaysia
2023
Mid Yorkshire Hospitals NHS Trust
2023
Chulalongkorn University
2023
Neurosciences Institute
2023
Neurology, Inc
2020
King Abdulaziz City for Science and Technology
2014-2017
Alfaisal University
1993-2016
Saad Specialist Hospital
2009
University of Toronto
2003
Our knowledge of disease genes in neurological disorders is incomplete. With the aim closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families whom known had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to identification 69 recessive not previously associated with disease, which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6,...
Abstract Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons in the brain and spinal cord, leading to muscle weakness eventually death from respiratory failure. ALS familial about 10% cases, with SOD1 mutations accounting for 20% cases. Here we describe consanguineous family segregating juvenile an autosomal recessive pattern genetic variant responsible disorder. Methods: We performed homozygosity mapping direct sequencing...
In this study, we report the experience of only reference clinical next-generation sequencing lab in Saudi Arabia with first 1000 families who span a wide-range suspected Mendelian phenotypes. A total 1019 tests were performed period March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings and 33 trio parents). Multigene panels accounted for 672 tests, while whole exome (WES) represented remaining 347 tests. Pathogenic likely pathogenic variants that...
<b>Objective: </b> To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations. <b>Background: The association of progressive pigmentary macular dystrophy clinically defines a distinct form ADCA classified as SCA-7. is caused by expansion highly unstable CAG repeat that lies coding region novel gene on chromosome 3p12-13. <b>Methods: We screened 51 kindreds, which SCA-1, SCA-2, SCA-3, SCA6 mutations had been excluded,...
We report MRI findings in 6 patients with Behcet's disease and CNS involvement. There were 3 different stages of imaging appearance: (1) During the acute illness, there scattered areas high signal intensity on T2-weighted images predilection to central structures cerebrum, cerebral peduncles, basis pontis. (2) recovery phase, most these improved, but some white matter persisted upper brainstem peripheral subcortical matter. Occasionally, suggestive microhematoma. (3) chronic atrophy...
Six patients in two unrelated families from the eastern Arabian peninsula presented with childhood-onset progressive external ophthalmoplegia (PEO), mild facial and proximal limb weakness, severe cardiomyopathy requiring cardiac transplantation. Muscle biopsies showed ragged-red cytochrome c oxidase-negative fibers. The activities of several complexes electron-transport chain were decreased Southern blot analysis multiple mtDNA deletions. apparent autosomal-recessive inheritance association...
<b><i>Objective:</i></b> Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle dystrophy type 2B (LGMD2B). The purpose this study was to define genomic organization conduct mutational screening a survey clinical features 21 patients with defined molecular defects gene. <b><i>Methods:</i></b> Genomic determined by comparing cDNA sequence P1-derived artificial chromosomes (PACs) containing Mutational...
Abstract Botulinum toxin (BT) therapy is a complex and highly individualised defined by treatment algorithms injection schemes describing its target muscles their dosing. Various consensus guidelines have tried to standardise improve BT therapy. We wanted update by: (1) Acknowledging recent advances of algorithms. (2) Basing dosing tables on statistical analyses real-life data 1831 injections in 36 different 420 dystonia patients 1593 31 240 spasticity patients. (3) Providing more detailed...
'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG known to be heterogenous and has been classified into late-onset early-onset types, based on age onset symptoms. We tested five families for genetic linkage established chromogene 2p markers (Z(theta) = 3.65) with evidence locus heterogeneity. Three one family had high posterior probability (P > 0.94) chromosome 2p,...
Primary lateral sclerosis (PLS) is a motor neuron disorder that exclusively affects upper neurons leading to their degeneration. Mutations in the ALS2 gene encoding protein Alsin have been described previously juvenile form of disease. In this study, we identify mutation ERLIN2 PLS patients and describe an vitro model for loss function.Single nucleotide polymorphism arrays were used homozygosity mapping. DNA sequencing candidate genes was detect underlying mutation. Level mRNA measured by...