Publications by authors named "C Achkar"
Background: Effects of subthalamic nucleus deep brain stimulation (STN-DBS) on neuropsychiatric symptoms of Parkinson's disease (PD) remain debated. Sensor technology might help to objectively assess behavioural changes after STN-DBS.
Case Presentation: 5 PD patients were assessed 1 before and 5 months after STN-DBS with the Movement Disorders Society Unified Parkinson's Disease Rating Scale part III in the medication ON (plus postoperatively stimulation ON) condition, the Montreal Cognitive Assessment, the Questionnaire for Impulsive-Compulsive Behaviors in Parkinson's Disease Rating Scale present version, the Hospital Anxiety and Depression Scale and the Starkstein Apathy Scale.
Objective: We aimed to develop consensus for diagnosis/management of SCN8A-related disorders. Utilizing a modified Delphi process, a global cohort of experienced clinicians and caregivers provided input on diagnosis, phenotypes, treatment, and management of SCN8A-related disorders.
Methods: A Core Panel (13 clinicians, one researcher, six caregivers), divided into three subgroups (diagnosis/phenotypes, treatment, comorbidities/prognosis), performed a literature review and developed questions for the modified Delphi process.
Objectives: We aimed to develop consensus on comorbidities (frequency, severity, and prognosis) and overall outcomes in epilepsy, development, and cognition for the five phenotypes of SCN8A-related disorders.
Methods: A core panel consisting of 13 clinicians, 1 researcher, and 6 caregivers was formed and split into three workgroups. One group focused on comorbidities and prognosis.
Article Synopsis
- The study focused on KCTD7-related progressive myoclonic epilepsy (PME), a rare genetic disorder, and aimed to provide detailed clinical and genetic insights from a large international group of patients.
- It included 42 patients from 36 families, finding that myoclonic seizures often began by 14 months of age, with various EEG and MRI findings, and a significant portion showed delayed development and progressive regression.
- The research also highlighted previous cases and found that out of 21 patients with genetic testing, some had known mutations while others had novel variants, underscoring the variety in clinical manifestations and severity of the disorder.
Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases, but the systematic identification of such individuals remains a challenge. Here we performed whole-genome sequencing analyses to characterize genetic variation in 235 individuals (from 209 families) with ataxia-telangiectasia, a severely debilitating and life-threatening recessive genetic disorder, yielding a complete molecular diagnosis in almost all individuals. We developed a predictive taxonomy to assess the amenability of each individual to splice-switching ASO intervention; 9% and 6% of the individuals had variants that were 'probably' or 'possibly' amenable to ASO splice modulation, respectively.
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