Explanipedia

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease Open

Lara M. Lange, Zih‐Hua Fang, Laurel A. Screven, Ai Huey Tan, Roy N. Alcalay , et al. · 2025

Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants …

Cortical blindness: a rare feature of seropositive neuromyelitis optica Open

Rania Zouari, Amine Rachdi, Zakaria Saied, Samia Ben Sassi · 2025

Background Neuromyelitis Optica (NMO) is an autoimmune neurological disorder affecting the central nervous system mainly the spinal cord and optic nerves. Typically, patients develop a severe optic neuritis and/or a longitudinally extensiv…

Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B‐Associated Parkinsonism Open

Linda L. Gallo, Emna Ben Mansour, Silvia Nicolosi, Anna Pichiecchio, Simone Gana , et al. · 2025

Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease Open

André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller , et al. · 2025

Background With third-generation long-read sequencing (LRS) platforms and optical genome mapping technologies (OGM), the ability to detect large and complex structural variants (SVs) is rapidly advancing. This has led to the discovery of n…

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson’s Disease Open

Lara M. Lange, Zih‐Hua Fang, Laurel A. Screven, Ai Huey Tan, Roy N. Alcalay , et al. · 2025

Background Dystonia and Parkinson’s disease (PD) show clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective To assess the frequency of dystonia-linked pathogenic variants in PD. Methods …

Guillain-Barré Syndrome After COVID19 Vaccination: A Single-Center Study in Tunisia and 1 Year Follow-Up Open

Rania Zouari, Dina Ben Mohamed, Mohamed Zakaria Saeid, Fatma Nabli, Samia Ben Sassi · 2025

Introduction: After the beginning of the COVID-19 pandemic, several research teams looked for developing vaccines against SARS-CoV-2 and a mass vaccination campaign started worldwide. Since then, few neurological side effects of COVID-19 v…

The age at onset of LRRK2 p.Gly2019Ser Parkinson’s disease across ancestries and countries of origin Open

Theresa Lüth, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe , et al. · 2025

Objectives The LRRK2 p.Gly2019Ser pathogenic variant has reduced penetrance and presents a wide range of age at onset (AAO) in patients with Parkinson’s disease (PD). We aim to elucidate differences in the cumulative incidence of LRRK2 p.G…

Anti-HMGCR myopathy: a first case report from North Africa and literature insights Open

H. Abida, Imen Zamali, I. Rachdi, Zakaria Saied, Ahlem Ben Hmid , et al. · 2025

Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a rare idiopathic inflammatory myopathy characterized by severe muscle damage and minimal extra-muscular involvement. This report presents the first documented c…

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase Open

Feda E. Mohamed, Lara Alzyoud, Mohammad A. Ghattas, Mohammed Tabouni, André Fienemann , et al. · 2025

Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the SPR gene, which may lead to developmental delays, psychomotor retardation, and cognitive impairments. Two consanguineous North Afr…

A rare presentation of stiff-person syndrome with a nonspecific focal myositis: A case report Open

Arij Ezzouhour Yahyaoui, S. Sayhi, Nour Elhouda Guediche, Zakaria Saied, B. Arfaoui , et al. · 2024

Introduction. The stiff-person syndrome (SPS) is a rare disease whose incidence is estimated at approximately 1 in a million individuals in the general population. Diagnosis relies on a combination of clinical, immunological, and electromy…

The Genetic Architecture of Parkinson's Disease in the AfrAbia Population: Current State and Future Perspectives Open

Wael Mohamed, Mohamed Abdelhalim Eltantawi, Vidhu Agarwal, Sara Bandrés‐Ciga, Mary B. Makarious , et al. · 2024

Over 80% of genetic studies in the Parkinson’s disease (PD) field have been conducted on individuals of European descent. There is a social and scientific imperative to understand the genetic basis of PD across global populations for thera…

Anti‐Ri‐antibodies associated paraneoplastic myelopathy revealing a woman's breast cancer: A case report Open

Rania Zouari, Ahlem Ben Hmid, Jihen Abdellatif, Imen Zamali, Mohamed Zakaria Saeid , et al. · 2024

Paraneoplastic myelopathy (PM) is an enigmatic immune‐mediated disorder rarely associated with breast cancer (BC) and anti‐Ri antibodies. Sometimes diagnosis is difficult due to the heterogeneity of symptoms and the timing of their onset. …

The Evolution of Genetic Variability at the LRRK2 Locus Open

Dylan T. Guenther, Jordan Follett, Rim Amouri, Samia Ben Sassi, F. Hentati , et al. · 2024

Leucine-rich repeat kinase 2 (LRRK2) c.6055G>A (p.G2019S) is a frequent cause of Parkinson’s disease (PD), accounting for >30% of Tunisian Arab-Berber patients. LRRK2 is widely expressed in the immune system and its kinase activity confers…

Cerebral large vessels vasculitis following Guillain-Barré syndrome as first clinical manifestations of primary Sjogren's syndrome: A case based – Review Open

Zakaria Saied, Rania Zouari, Amine Rachdi, Fatma Nabli, Dina Ben Mohamed , et al. · 2024

Neurological complications can be inaugural in lead to urgent investigations and treatment. Peripheral and central neurological manifestations can coexist. The approach should integrate careful clinical assessment, as well as radiological …

Increased IL-22 in cerebrospinal fluid of neuro-behçet’s disease patients Open

Mériam Belghith, Olfa Maghrebi, Rafika Ben Laamari, Mariem Hanachi, Sana Hrir , et al. · 2024

Remitting-Relapsing Multiple Sclerosis (RRMS) and Neuro-Behçet Disease (NBD) are two chronic neuro-inflammatory disorders leading to brain damage and disability in young adults. Herein, we investigated in these patients the cytokine respon…

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses Open

Emil K. Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real , et al. · 2024

National Institutes of Health, the Canada Excellence Research Chairs program, Aligning Science Across Parkinson's, the Michael J Fox Foundation for Parkinson's Research, and the UK Medical Research Council.

The evolution of genetic variability at the LRRK2 locus Open

Matthew J. Farrer, Dylan T. Guenther, Jordan Follett, Samia Ben Sassi, Rim Amouri , et al. · 2024

Leucine-rich repeat kinase 2 (LRRK2) c.6055G>A (p.G2019S) is a frequent cause of Parkinson’s disease (PD) accounting for >30% of Tunisian Arab-Berber patients. LRRK2 is widely expressed in the immune system and its kinase activity confers …

Genetic Modifiers of LRRK2 Parkinson's Disease: A Replication Study in Arab‐Berbers Open

Jordan Follett, Dylan T. Guenther, Leyna Xoi, Rim Amouri, Samia Ben Sassi , et al. · 2024

Most recently, Lai and colleagues assembled array data from 776 LRRK2 p.G2019S heterozygous patients with Parkinson's disease (PD) to nominate genetic loci that modify the penetrance and age-at-onset (AAO).1 This multicenter genome-wide as…

The AfrAbia+plus Parkinson's Disease Genomic Consortium Open

Wael Mohamed, Mohamed Abdelhalim Eltantawi, Yasser Mecheri, Yared Z. Zewde, Walaa A. Kamel , et al. · 2024

A pathogenic variant in RAB32 causes autosomal dominant Parkinson’s disease andactivates LRRK2 kinase Open

Emil K. Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real , et al. · 2024

Summary Background Parkinson’s disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with a notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as a subset ar…

Cerebral large vessels vasculitis following Guillain-Barré syndrome as first clinical manifestations of primary Sjogren’s syndrome : a case report and review of the literature Open

Zakaria Saied, Rania Zouari, Fatma Nabli, Amine Rachdi, Dina Ben Mohamed , et al. · 2023

Background : Primary Sjogren’s syndrome (pSS) is an autoimmune exocrinopathy in which sicca syndrome of the exocrine glands represent the main clinical manifestation. Severe extraglandular signs of pSS are determinant for the prognosis of …

Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism Open

Theresa Lüth, Carolin Gabbert, Sebastian Koch, Inke R. König, Amke Caliebe , et al. · 2023

Background A mitochondrial polygenic score (MGS) is composed of genes related to mitochondrial function and found to be associated with Parkinson's disease (PD) risk. Objective To investigate the impact of the MGS and lifestyle/environment…

Sexual dysfunction and motor disability in Parkinson’s disease: any link? Open

Aymen Mousli, R. Zouari, A. Lahmer, Zakaria Saied, Amine Rachdi , et al. · 2023

Introduction Parkinson’s disease (PD) is a chronic, neurodegenerative disorder leading to dopamine deficiency. Phenotypically, there is a wide spectrum of motor and non-motor symptoms (NMS). Among NMS, sexual dysfunction (SD) is one of the…

Toxic encephalopathy after an overdose of cocaine : a case serie Open

Rania Zouari, Fatma Nabli, Dina Ben Mohamed, Mohamed Zakaria Saeid, Samia Ben Sassi · 2023

Introduction cocaine is a widely used illegal drug, known for its fast ability to induce euphoria and arousal. However, cocaine exposure can contribute to several mental and physical effects. Cocaine induced brain damage can be divided int…

Interaction of mitochondrial polygenic score and environmental factors in LRRK2 p.Gly2019Ser parkinsonism Open

Theresa Lüth, Carolin Gabbert, Inke R. König, Amke Caliebe, Sebastian Koch , et al. · 2023

The objective of our study was to investigate the impact of the mitochondrial polygenic score (MGS) and lifestyle/environmental data on age at onset in LRRK2 p.Gly2019Ser parkinsonism ( LRRK2 -PD) and idiopathic Parkinson’s disease (iPD). …

Letter to editor response: Why myoclonus is linked to COVID19 infection, not to anti-COVID 19 vaccine Open

Dina Ben Mohamed, Rania Zouari, Jihen Ketata, Fatma Nabli, Samia Ben Sassi · 2022

Extending brainstem and capsule-thalamic lesions in a patient with parenchymal neuro-Behçet disease Open

Zakaria Saied, Cyrine Jeridi, Fatma Nabli, Myriam Medini, Samir Belal , et al. · 2022

A 44-year-old female patient with a history of recurrent oral and genital ulcers presented with rapid gait disturbance, headaches, dysphonia, dysphagia, and diplopia evolving for 3 weeks. On examination, spastic tetraparesis, cerebellar at…

Moya-Moya like vasculitis secondary to sarcoidosis: a rare case report of concomitant ischemic infracts and sub-arachnoid hemorrhage Open

Rania Zouari, Mohamed Zakaria Saeid, Samia Ben Sassi · 2022

Background : Sarcoidosis is a rare idiopathic systemic inflammatory disease that mainly affects the lymph nodes, lungs, skin and eyes. Nervous system involvement is only seen in 5% of cases of sarcoidosis. Cerebral vasculitis, is particula…

A Tunisian patient with CLCN2 ‐related leukoencephalopathy Open

Dina Ben Mohamed, Zakaria Saied, Samia Ben Sassi, Mariem Ben Saïd, Fatma Nabli , et al. · 2022

CLCN2‐related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC‐2 chloride channel protein with …

Myoclonus status revealing COVID 19 infection Open

Dina Ben Mohamed, Rania Zouari, Jihen Ketata, Fatma Nabli, Samir Blel , et al. · 2022

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