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Review Article
Treatable Ataxias: How to Find the Needle in the Haystack?
Albert Stezin, Pramod Kumar Pal
J Mov Disord. 2022;15(3):206-226.   Published online September 7, 2022
DOI: https://doi.org/10.14802/jmd.22069
  • 2,110 View
  • 299 Download
AbstractAbstract PDF
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. Treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, Miller-Fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. Although dietary modification with a gluten-free diet is adequate in gluten ataxia, other autoimmune ataxias are managed by short-course steroids, plasma exchange, or immunomodulation. For autoimmune ataxias secondary to malignancy, treatment of tumor can reduce ataxic symptoms. Chronic alcohol consumption, antiepileptics, anticancer drugs, exposure to insecticides, heavy metals, and recreational drugs are potentially avoidable and treatable causes of ataxia. Infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, Whipple’s disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. These disorders are treated with steroids and antibiotics. Recognizing treatable disorders is of paramount importance when dealing with ataxias given that early treatment can prevent permanent neurological sequelae.
Case Report
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
Eun Young Kim, Seon Young Kim, Youngduk Seo, Chaewon Shin
J Mov Disord. 2022;15(3):269-272.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22006
  • 1,096 View
  • 52 Download
  • 1 Citations
AbstractAbstract PDFSupplementary Material
Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 mutation with a unique clinical presentation. A 43-year-old male visited our hospital with complaints of progressing gait disturbance since a generalized tonic clonic seizure. There were no past neurological symptoms or familial disorders. Neurological examination revealed bradykinesia, masked face, stooped posture, parkinsonian gait, and postural instability. The bilateral uptake by dopamine transporters was nearly abolished, as determined by N-(3-[18F]fluoropropyl)- 2β-carbon ethoxy-3β-(4-iodophenyl) nortropane positron emission tomography (18F-FP-CIT PET). Next-generation sequencing revealed a heterozygous c.1066_1069delTCTG (p.Ser356ArgfsTer56) frameshift variant and a heterozygous c.80G>A (p.Arg27His) missense variant of the FBXO7 gene. The patient’s specific clinical features, medication-refractory parkinsonism and seizures further broaden the spectrum of FBXO7 mutations. The nearly abolished dopamine transporter uptake identified by 18F-FP-CIT PET is frequently found in patients with FBXO7 mutations, which is different from the usual rostrocaudal gradient that is observed in patients with Parkinson’s disease.

Citations

Citations to this article as recorded by  
  • The characteristics of FBXO7 and its role in human diseases
    Yeling Zhong, Jinyun Li, Meng Ye, Xiaofeng Jin
    Gene.2023; 851: 146972.     CrossRef
Original Article
Increased Mortality in Young-Onset Parkinson’s Disease
Eldbjørg Hustad, Tor Åge Myklebust, Sasha Gulati, Jan O. Aasly
J Mov Disord. 2021;14(3):214-220.   Published online July 29, 2021
DOI: https://doi.org/10.14802/jmd.21029
  • 14,942 View
  • 235 Download
  • 4 Citations
AbstractAbstract PDF
Objective
Few studies have followed Parkinson’s disease (PD) patients from the time of diagnosis to the date of death. This study compared mortality in the Trondheim PD cohort to the general population, investigated causes of death and analyzed the associations between mortality and age at disease onset (AAO) and cognitive decline defined as Montreal Cognitive Assessment (MoCA) score below 26.
Methods
The cohort was followed longitudinally from 1997. By the end of January 2020, 587 patients had died. Comparisons to the Norwegian population were performed by calculating standardized mortality ratios (SMRs). Survival curves were estimated using the standard Kaplan-Meier estimator, and multivariable Cox proportional hazard models were estimated to investigate associations.
Results
SMR was 2.28 [95% confidence interval (CI): 2.13–2.44] for the whole cohort. For participants with AAO 20–39 years, the SMR was 5.55 (95% CI: 3.38–8.61). Median survival was 15 years (95% CI: 14.2–15.5) for the whole cohort. Early-onset PD (EOPD) patients (AAO < 50 years) had the longest median survival time. For all groups, there was a significant shortening in median survival time and an almost 3-fold higher age- and sex-adjusted hazard ratio for death when the MoCA score decreased below 26.
Conclusion
PD patients with an AAO before 40 years had a more than fivefold higher mortality rate compared to a similar general population. EOPD patients had the longest median survival; however, their life expectancy was reduced to a greater degree than that of late-onset PD patients. Cognitive impairment was strongly associated with mortality in PD.

Citations

Citations to this article as recorded by  
  • Real-World Prescription Patterns For Patients With Young-Onset Parkinson’s Disease in China: A Trend Analysis From 2014 to 2019
    Xiao-qin Liu, Xiao-yu Wang, Hui-ming Shen, Wen-yuan Pang, Ming-kang Zhong, Chun-lai Ma
    Frontiers in Pharmacology.2022;[Epub]     CrossRef
  • Montreal cognitive assessment (MoCA) is highly correlated with 1-year mortality in hip fracture patients
    R. M. Y. Wong, R. W. K. Ng, W. W. Chau, W. H. Liu, S. K. H. Chow, C. Y. Tso, N. Tang, W.-H. Cheung
    Osteoporosis International.2022; 33(10): 2185.     CrossRef
  • Obituary for Jan O. Aasly (1950–2022)
    Matthew J. Farrer
    Movement Disorders.2022; 37(9): 1783.     CrossRef
  • Age Cutoff for Early‐Onset Parkinson's Disease: Recommendations from the International Parkinson and Movement Disorder Society Task Force on Early Onset Parkinson's Disease
    Raja Mehanna, Katarzyna Smilowska, Jori Fleisher, Bart Post, Taku Hatano, Maria Elisa Pimentel Piemonte, Kishore Raj Kumar, Victor McConvey, Baorong Zhang, Eng‐King Tan, Rodolfo Savica, Rodolfo Savica, Eng‐King Tan, Raja Mehanna, Katarzyna Smilowska, Conn
    Movement Disorders Clinical Practice.2022; 9(7): 869.     CrossRef
Case Report
Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
Jessica Qiu, Kishore Raj Kumar, Eloise Watson, Kate Ahmad, Carolyn M. Sue, Michael W. Hayes
J Mov Disord. 2021;14(2):157-160.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20159
  • 3,963 View
  • 123 Download
  • 5 Citations
AbstractAbstract PDFSupplementary Material
The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.

Citations

Citations to this article as recorded by  
  • Possible EIF2AK2 ‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions
    Sophie E. Waller, Hugo Morales‐Briceño, Laura Williams, Shekeeb S. Mohammad, Avi Fellner, Kishore R. Kumar, Michel Tchan, Victor S.C. Fung
    Movement Disorders Clinical Practice.2022; 9(2): 240.     CrossRef
  • Movement disorders and neuropathies: overlaps and mimics in clinical practice
    Francesco Gentile, Alessandro Bertini, Alberto Priori, Tommaso Bocci
    Journal of Neurology.2022; 269(9): 4646.     CrossRef
  • Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia
    Damiana Scuteri, Kengo Hamamura, Chizuko Watanabe, Paolo Tonin, Giacinto Bagetta, Maria Tiziana Corasaniti
    International Journal of Molecular Sciences.2022; 23(15): 8580.     CrossRef
  • An overview of the pharmacotherapeutics for dystonia: advances over the past decade
    O. Abu-hadid, J. Jimenez-Shahed
    Expert Opinion on Pharmacotherapy.2022; 23(17): 1927.     CrossRef
  • Exploitation of Thermal Sensitivity and Hyperalgesia in a Mouse Model of Dystonia
    Damiana Scuteri, Laura Rombolà, Silvia Natoli, Antonio Pisani, Paola Bonsi, Kengo Hamamura, Giacinto Bagetta, Paolo Tonin, Maria Tiziana Corasaniti
    Life.2021; 11(9): 985.     CrossRef
Review Articles
Parkinson’s Disease in Sub-Saharan Africa: A Review of Epidemiology, Genetics and Access to Care
Uduak Williams, Oliver Bandmann, Richard Walker
J Mov Disord. 2018;11(2):53-64.   Published online May 30, 2018
DOI: https://doi.org/10.14802/jmd.17028
  • 10,876 View
  • 191 Download
  • 27 Citations
AbstractAbstract PDF
A low prevalence of Parkinson’s disease (PD) has been reported in the Sub-Saharan Africa (SSA) region. The genetic causes and clinical features of PD in this region have been poorly described. Very few reports have examined the availability and access to evidence-based quality care for people living with PD in this region. We reviewed all publications focusing on idiopathic PD from SSA published up to May 2016 and observed a prevalence of PD ranging from 7/100,000 in Ethiopia to 67/100,000 in Nigeria. The most recent community-based study reported a mean age at onset of 69.4 years. The infrequent occurrence of mutations in established PD genes was also observed in the region. Treatments were non-existent or at best irregular. Additionally, there is a lack of well-trained medical personnel and multidisciplinary teams in most countries in this region. Drugs for treating PD are either not available or unaffordable. Large-scale genetic and epidemiological studies are therefore needed in SSA to provide further insights into the roles of genetics and other etiological factors in the pathogenesis of PD. The quality of care also requires urgent improvement to meet the basic level of care required by PD patients.

Citations

Citations to this article as recorded by  
  • Phytoconstituents of Datura metel extract improved motor coordination in haloperidol-induced cataleptic mice: Dual-target molecular docking and behavioural studies
    Bilqis Abiola Lawal, Yusuf Oloruntoyin Ayipo, Abisola Oyindamola Adekunle, Mohammed Otuofu Amali, Umar Muhammad Badeggi, Waleed A. Alananzeh, Mohd Nizam Mordi
    Journal of Ethnopharmacology.2023; 300: 115753.     CrossRef
  • The intestinal luminal sources of α-synuclein: a gastroenterologist perspective
    Aaron Lerner
    Nutrition Reviews.2022; 80(2): 282.     CrossRef
  • Surveying Global Availability of Parkinson’s Disease Treatment
    Zhao H.K. Goh, Julia L.Y. Cheong, Connie Marras, Caroline M. Tanner, Meike Kasten, Amos D. Korczyn, Lana Chahine, Raymond Lo, Alastair J. Noyce
    Journal of Parkinson's Disease.2022; 12(3): 1023.     CrossRef
  • Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease
    Nikita Simone Pillay, Owen A. Ross, Alan Christoffels, Soraya Bardien
    Frontiers in Genetics.2022;[Epub]     CrossRef
  • Utility of 18F FDG-PET in Parkinsonism in an African population
    Ferzana Hassan Amod, Ahmed Iqbal Bhigjee, Nozipho Nyakale
    eNeurologicalSci.2022; 27: 100399.     CrossRef
  • A Narrative Review of Specialist Parkinson’s Nurses: Evolution, Evidence and Expectation
    Emma Tenison, Alice James, Louise Ebenezer, Emily J. Henderson
    Geriatrics.2022; 7(2): 46.     CrossRef
  • Treatment with bark extracts of Voacanga africana attenuates motor coordination deficit, depressive-like behavior and microglial reaction, in a mouse model of early Parkinson's disease
    Salimata Diagne Houndjo, Christophe Melon, Pascal Salin, Abdoulaye Samb, Fatou Bintou Sarr, Lydia Kerkerian-Le Goff, Sylviane Lortet
    Phytomedicine Plus.2022; 2(3): 100297.     CrossRef
  • Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort
    Douglas P. Loesch, Andrea R.V.R. Horimoto, Elif Irem Sarihan, Miguel Inca-Martinez, Emily Mason, Mario Cornejo-Olivas, Luis Torres, Pilar Mazzetti, Carlos Cosentino, Elison Sarapura-Castro, Andrea Rivera-Valdivia, Angel C. Medina, Elena Dieguez, Victor Ra
    Parkinsonism & Related Disorders.2022; 102: 7.     CrossRef
  • The impact of COVID‐19 on patients with neurological disorders and their access to healthcare in Africa: A review of the literature
    Olivier Uwishema, Kristian Steen Frederiksen, Inês F. Silva Correia, Ashraf Mahmoud, Helen Onyeaka, Burhan Dost
    Brain and Behavior.2022;[Epub]     CrossRef
  • Particularités de la Maladie de Parkinson de la personne âgée : expérience du service de gériatrie de Fann à Dakar (Sénégal)
    A. Sall, M. Ba, R. Djajheté, D. Ba, S. Zaki, M. Coumé
    NPG Neurologie - Psychiatrie - Gériatrie.2022;[Epub]     CrossRef
  • Perspective: Low Risk of Parkinson's Disease in Quasi-Vegan Cultures May Reflect GCN2-Mediated Upregulation of Parkin
    Mark F McCarty, Aaron Lerner
    Advances in Nutrition.2021; 12(2): 355.     CrossRef
  • A Rapid Motor Task-Based Screening Tool for Parkinsonism in Community-Based Studies
    Wendy W. Dlamini, Searles Nielsen, Mwiza Ushe, Gill Nelson, Brad A. Racette
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Parkinson disease-associated cognitive impairment
    Dag Aarsland, Lucia Batzu, Glenda M. Halliday, Gert J. Geurtsen, Clive Ballard, K. Ray Chaudhuri, Daniel Weintraub
    Nature Reviews Disease Primers.2021;[Epub]     CrossRef
  • Probing the Pre-diagnostic Phase of Parkinson's Disease in Population-Based Studies
    Lisanne J. Dommershuijsen, Agnita J. W. Boon, M. Kamran Ikram
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Medicinal plants for anti-neurodegenerative diseases in West Africa
    Emmanuel Ayodeji Ayeni, Yuzhou Gong, Hao Yuan, Yikao Hu, Xiaolin Bai, Xun Liao
    Journal of Ethnopharmacology.2021; : 114468.     CrossRef
  • Mapping the Diverse and Inclusive Future of Parkinson’s Disease Genetics and Its Widespread Impact
    Inas Elsayed, Alejandro Martinez-Carrasco, Mario Cornejo-Olivas, Sara Bandres-Ciga
    Genes.2021; 12(11): 1681.     CrossRef
  • Parkinson’s disease – a review of pathogenesis, recent advances in management, and challenges of care in sub-Saharan Africa
    Akintomiwa I. Makanjuola, Funmilola T. Taiwo, Joseph O. Yaria, Rufus O. Akinyemi, Adesola Ogunniyi
    Journal of Global Medicine.2021; : e35.     CrossRef
  • Genetics of Parkinson's disease: An introspection of its journey towards precision medicine
    Sara Bandres-Ciga, Monica Diez-Fairen, Jonggeol Jeff Kim, Andrew B. Singleton
    Neurobiology of Disease.2020; 137: 104782.     CrossRef
  • Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients
    Oluwafemi G. Oluwole, Helena Kuivaniemi, Shameemah Abrahams, William L. Haylett, Alvera A. Vorster, Carel J. van Heerden, Colin P. Kenyon, David L. Tabb, Michael B. Fawale, Taofiki A. Sunmonu, Abiodun Ajose, Matthew O. Olaogun, Anastasia C. Rossouw, Ludo
    BMC Medical Genetics.2020;[Epub]     CrossRef
  • Translation, Validation, Diagnostic Accuracy, and Reliability of Screening Questionnaire for Parkinsonism in Three African Countries
    Ali Shalash, Njideka U. Okubadejo, Jacques Doumbe, Oluwadamilola O. Ojo, Eman Hamid, Callixte Kuate, Sara Calvo, Asmaa Helmi, Osigwe P. Agabi, Mohamed Essam, Laura Aguado, Hanan Elrassas, Tamer Roushdy, Caroline M. Tanner, Esther Cubo
    Journal of Parkinson's Disease.2020; 10(3): 1113.     CrossRef
  • Parkinson's Disease Research on the African Continent: Obstacles and Opportunities
    Marieke C. J. Dekker, Toumany Coulibaly, Soraya Bardien, Owen A. Ross, Jonathan Carr, Morenikeji Komolafe
    Frontiers in Neurology.2020;[Epub]     CrossRef
  • Chitosan-Coated Hydroxypropylmethyl Cellulose Microparticles of Levodopa (and Carbidopa): In Vitro and Rat Model Kinetic Characteristics
    Benedicta Obenewaa Dankyi, Seth Kwabena Amponsah, Grace Lovia Allotey-Babington, Ismaila Adams, Nana Aboadwe Goode, Henry Nettey
    Current Therapeutic Research.2020; 93: 100612.     CrossRef
  • Parkinson's disease in Nigeria: A review of published studies and recommendations for future research
    Oluwafemi G. Oluwole, Helena Kuivaniemi, Jonathan A. Carr, Owen A. Ross, Matthew O.B. Olaogun, Soraya Bardien, Morenikeji A. Komolafe
    Parkinsonism & Related Disorders.2019; 62: 36.     CrossRef
  • Clinical series of Parkinson's disease in KwaZulu-Natal, South Africa: Retrospective chart review
    Ferzana Hassan Amod, Ahmed Iqbal Bhigjee
    Journal of the Neurological Sciences.2019; 401: 62.     CrossRef
  • Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease
    Nicola du Toit, Riaan van Coller, David G. Anderson, Jonathan Carr, Soraya Bardien
    neurogenetics.2019; 20(4): 215.     CrossRef
  • Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease
    Njideka U. Okubadejo, Mie Rizig, Oluwadamilola O. Ojo, Hallgeir Jonvik, Olajumoke Oshinaike, Emmeline Brown, Henry Houlden, Hiroyoshi Ariga
    PLOS ONE.2018; 13(12): e0207984.     CrossRef
  • Motor Symptoms of Parkinson’s Disease – A Review Literature
    Hilda Aboagyewaa Agyekum
    Neurophysiology and Rehabilitation.2018; : 38.     CrossRef
Genetics of Progressive Supranuclear Palsy
Sun Young Im, Young Eun Kim, Yun Joong Kim
J Mov Disord. 2015;8(3):122-129.   Published online September 10, 2015
DOI: https://doi.org/10.14802/jmd.15033
  • 26,104 View
  • 371 Download
  • 34 Citations
AbstractAbstract PDF
Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies.

Citations

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  • Direct and Indirect Effects of Filamin A on Tau Pathology in Neuronal Cells
    Stéphanie Levert, Julie Pilliod, Étienne Aumont, Sandrine Armanville, Cyntia Tremblay, Frédéric Calon, Nicole Leclerc
    Molecular Neurobiology.2023; 60(2): 1021.     CrossRef
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    Patrycja Krzosek, Natalia Madetko, Anna Migda, Bartosz Migda, Dominika Jaguś, Piotr Alster
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
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    Alexander Fröhlich, Abigail L. Pfaff, Vivien J. Bubb, Sulev Koks, John P. Quinn
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    Galit Kleiner, Stephen A. Ryan, Juan Bilbao, Julia Keith, Ekaterina Rogaeva, Sandra E. Black, Anthony E. Lang, Mario Masellis
    Movement Disorders Clinical Practice.2022; 9(4): 501.     CrossRef
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    M. Rodríguez, H. Kreinter, N. Zapa, O. Oliveros, C. Jiménez
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    Yura Jang, Thujitha Thuraisamy, Javier Redding‐Ochoa, Olga Pletnikova, Juan C. Troncoso, Liana S. Rosenthal, Ted M. Dawson, Alexander Y. Pantelyat, Chan Hyun Na
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    Molecular Neurodegeneration.2021;[Epub]     CrossRef
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    Etienne Leveille, Owen A. Ross, Ziv Gan-Or
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  • Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons
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    Scientific Reports.2020;[Epub]     CrossRef
  • LRP10 variants in progressive supranuclear palsy
    Leonie J.M. Vergouw, Shamiram Melhem, Laura Donker Kaat, Wang Z. Chiu, Demy J.S. Kuipers, Guido Breedveld, Agnita J.W. Boon, Li-San Wang, Adam C. Naj, Elizabeth Mlynarksi, Laura Cantwell, Marialuisa Quadri, Owen A. Ross, Dennis W. Dickson, Gerard D. Schel
    Neurobiology of Aging.2020;[Epub]     CrossRef
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    Subhan Tabba, Yi-Hsien Yeh, Ashwini Kini, Bayan Al Othman, Andrew G Lee
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  • Genetic Risk Factors for Essential Tremor: A Review
    Vasileios Siokas, Athina-Maria Aloizou, Zisis Tsouris, Ioannis Liampas, Paraskevi Aslanidou, Metaxia Dastamani, Alexandros G. Brotis, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou, Efthimios Dardiotis
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  • PSP-FTD Complex: A Possible Variant of PSP
    Sunil Pradhan, Ruchika Tandon
    American Journal of Alzheimer's Disease & Other Dementiasr.2020; 35: 153331752092238.     CrossRef
  • Microglial Activation and Inflammation as a Factor in the Pathogenesis of Progressive Supranuclear Palsy (PSP)
    Piotr Alster, Natalia Madetko, Dariusz Koziorowski, Andrzej Friedman
    Frontiers in Neuroscience.2020;[Epub]     CrossRef
  • Tau at the interface between neurodegeneration and neuroinflammation
    Alessandro Didonna
    Genes & Immunity.2020; 21(5): 288.     CrossRef
  • Efficiency of Transcranial Magnetic Stimulation in Progressive Supranuclear Palsy: Estimation Using Goniometry and Dinamometry
    K. A. Major, Z. Zs. Major, R. Craciunas, G. Carbone, C. Vaida, D. L. Pîslă
    Neurophysiology.2019; 51(1): 57.     CrossRef
  • Four-repeat tauopathies
    Thomas W. Rösler, Amir Tayaranian Marvian, Matthias Brendel, Niko-Petteri Nykänen, Matthias Höllerhage, Sigrid C. Schwarz, Franziska Hopfner, Thomas Koeglsperger, Gesine Respondek, Kerstin Schweyer, Johannes Levin, Victor L. Villemagne, Henryk Barthel, Os
    Progress in Neurobiology.2019; 180: 101644.     CrossRef
  • One decade ago, one decade ahead in progressive supranuclear palsy
    Maria Stamelou, Nikolaos Giagkou, Günter U Höglinger
    Movement Disorders.2019; 34(9): 1284.     CrossRef
  • The genetic and clinico‐pathological profile of early‐onset progressive supranuclear palsy
    Edwin Jabbari, John Woodside, Manuela M.X. Tan, Nicola Pavese, Oliver Bandmann, Boyd C.P. Ghosh, Luke A. Massey, Erica Capps, Tom T. Warner, Andrew J. Lees, Tamas Revesz, Janice L. Holton, Nigel M. Williams, Donald G. Grosset, Huw R. Morris
    Movement Disorders.2019; 34(9): 1307.     CrossRef
  • Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models
    Marina Sánchez, Ana García-Cabrero, Gentzane Sánchez-Elexpuru, Daniel Burgos, José Serratosa
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Original Article
Ataxia with Vitamin E Deficiency in Norway
Areej Elkamil, Krisztina K. Johansen, Jan Aasly
J Mov Disord. 2015;8(1):33-36.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14030
  • 11,396 View
  • 161 Download
  • 16 Citations
AbstractAbstract PDF
Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
Methods We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
Results A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4–5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
Conclusions We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.

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Review Articles
Genetics of Parkinson’s Disease - A Clinical Perspective
Sang-Myung Cheon, Lilian Chan, Daniel Kam Yin Chan, Jae Woo Kim
J Mov Disord. 2012;5(2):33-41.
DOI: https://doi.org/10.14802/jmd.12009
  • 25,337 View
  • 87 Download
  • 10 Citations
AbstractAbstract PDF

Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson’s disease (PD). Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.

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Human Genetic Variation and Parkinson’s Disease
Sun Ju Chung
J Mov Disord. 2010;3(1):1-5.
DOI: https://doi.org/10.14802/jmd.10001
  • 22,424 View
  • 45 Download
AbstractAbstract PDF

Parkinson’s disease (PD) is a chronic neurodegenerative disorder with multifactorial etiology. In the past decade, the genetic causes of monogenic forms of familial PD have been defined. However, the etiology and pathogenesis of the majority of sporadic PD cases that occur in outbred populations have yet to be clarified. The recent development of resources such as the International HapMap Project and technological advances in high-throughput genotyping have provided new basis for genetic association studies of common complex diseases, including PD. A new generation of genome-wide association studies will soon offer a potentially powerful approach for mapping causal genes and will likely change treatment and alter our perception of the genetic determinants of PD. However, the execution and analysis of such studies will require great care.


JMD : Journal of Movement Disorders