Publications by authors named "Seyyed Saleh Hashemi"
Introduction: Lafora disease (LD) is a severe form of progressive myoclonus epilepsy characterized by generalized seizures, myoclonus, intellectual decline, ataxia, spasticity, dysarthria, visual loss, and in later stages, psychosis and dementia. To date, mutations in the EPM2A and EPM2B/NHLRC1 genes have been identified as the common causes of LD. However, a mutation in PRDM8 has been reported only once in a Pakistani family affected with early-onset Lafora disease.
View Article and Find Full Text PDFBackground And Objective: Hereditary spastic paraplegia (HSP) is a heterogeneous neurodegenerative disorder with lower-limb spasticity and weakness. Different patterns of inheritance have been identified in HSP. Most autosomal-dominant HSPs (AD-HSPs) are associated with mutations of the gene (SPG4), leading to a pure form of HSP with variable age-at-onset (AAO).
View Article and Find Full Text PDFArticle Synopsis
- SPG11 mutations are linked to autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS), making diagnosis challenging due to overlapping symptoms.
- The study involved exome sequencing of DNA from ARHSP and JALS patients, along with clinical assessments like interviews, electrodiagnosis (EDX), and MRI scans.
- Findings revealed eight patients with SPG11 mutations showing features of both diseases, leading to the proposal that a combined ARHSP/JALS classification may be more accurate, with recommendations for improved diagnostic criteria and initial screening methods.