ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…Delineating the Molecular and Clinical Spectrum of Epilepsy-Dyskinesia Syndromes in Children (The Epilepsy-Dyskinesia Spectrum Study)
Objective: To understand the spectrum and association of movement and seizure disorders on a clinical and molecular level. Background: Epilepsy-Dyskinesia Syndromes (EDS) are neurological conditions…ATP1A3-related disorder overlapping syndrome: a case report
Objective: The phenotypic spectrum in dystonic syndromes in ATP1A3-related disorders is wide. History of drug-refractory seizures, developemental delay, incoordination, dysarthria and dysphagia and movement disorders…A family of Huntington’s disease with genetic anticipation in its paternal inheritance
Objective: We report a family of Huntington’s disease that exhibits genetic anticipation in its paternal inheritance. Background: HD is an autosomal dominant disorder with triad…Clinical and molecular features of Tunisian patients with Biallelic mutations in Huntington’s Disease
Objective: To investigate the clinical and molecular features of HD in homozygous versus heterozygous patients. Background: Huntington’s disease (HD) is a neurodegenerative autosomal dominant disorder…Case Study: Pitfalls of Commercial Genetic Testing for Huntington’s Disease
Objective: We present a family with initial false negative commercial testing for Huntington Disease (HD) and subsequent whole genome sequencing (WGS) that revealed an expanded…Huntington disease-like: an atypical presentation of Niemann-Pick type C.
Objective: Report a case of adult-onset Niemann-Pick disease type C (NPC) with Huntington disease-like (HDL) phenotype. Background: NPC is a neurodegenerative autosomal recessive lysosomal storage…Deep brain stimulation in chorea: four cases and literature review
Objective: We present four cases of pediatric chorea managed with deep brain stimulation (DBS) and review previously reported cases in the literature. We review clinical…Huntingtonism and bilateral basal ganglia hypointensity in a male with an XK variant but no McLeod red cell phenotype
Objective: To report a novel variant of XK without the characteristic RBC phenotype Background: XK disease (previously called McLeod Syndrome) is a rare X-linked disorder…TELO2 defect presenting with childhood-onset complex hyperkinetic MD
Objective: Expanding the TELO2-related phenotype by presenting a case with prominent hyperkinetic MD. Background: Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2…
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