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Original Article
LRRK2 G2019S impact on Parkinson disease; clinical phenotype and treatment in Tunisian patients
Guedi ALI BARREH, Ikram SGHAIER, Youssef ABIDA, Alya GHARBI, Amina NASRI, Saloua MRABET, Amira SOUISSI, Mouna BEN DJEBARA, Sameh TRABELSI, Imen KACEM, Amina GARGOURI-BERRACHI, Riadh GOUIDER
Received December 30, 2023  Accepted April 19, 2024  Published online April 23, 2024  
DOI: https://doi.org/10.14802/jmd.23276    [Accepted]
  • 665 View
  • 46 Download
AbstractAbstract PDF
Background
LRRK2-G2019S is the most frequent mutation in North African Parkinson's disease (PD) patients.Data on its impact on disease progression and treatment response remains elusive.Therefore, we aimed to explore the clinical features,treatments,and complications through the disease course of PD Tunisian patients according to their LRRK2-G2019S profile.
Methods
Longitudinal retrospective study conducted in the department of Neurology,Razi University Hospital.We included clinically diagnosed PD patients according to the MDS criteria and reviewed their medical records for clinical,treatment, and neuropsychological assessments.LRRK2-G2019S mutation was screened among all cases using Sanger sequencing.The correlation of LRRK2-G2019S and the clinical PD features was then evaluated.
Results
We included 393 PD patients with 41.5% of cases were mutated for LRRK2-G2019S. Those with mutation exhibited an earlier age of onset(p=0.017),and female-PD cases had a higher mutation frequency (p=0.008).Mutation carriers displayed distinct clinical features,with a higher frequency of postural instability gait difficulty (PIGD)forms(adjusted-p<0.001).Throughout the disease progression,carriers showed a faster annual progression in UPDRS-III scores (adjusted-p=0.009) and a significantly higher Levodopa Equivalent Dosevalues in later stages(1060.81 vs. 877.83 for 6-8 years).Motor complications such as dyskinesia (adjusted-p<0.001) and motor fluctuations(31.9% vs. 25.7%,adjusted-p<0.001) were more prevalent in carriers,particularly in later stages.LRRK2-G2019S carriers also exhibited a lower prevalence of non-motor symptoms including cognitive disordersfor episodic memory(adjusted-p<0.001),attention(adjusted-p<0.001),and dysexecutive disorders (adjusted-p=0.039),as well asneuropsychiatric symptoms and dysautonomic signs.
Conclusion
This study demonstrated the variability of clinical profile among Tunisian PD cases explained by the incomplete penetrance of LRRK2-G2019S that increases with age.Further studies with biomarker and disease progression data are necessary to improve PD management.
Letter to the editor
Knowledge, attitude and perception of genetic testing in patients with movement disorders, their caregivers and health care professionals
Sneha Kamath, Vikram V Holla, Nitish Kamble, Rohan R Mahale, Ravi Yadav, Pramod Kumar Pal
Received February 10, 2024  Accepted March 27, 2024  Published online March 27, 2024  
DOI: https://doi.org/10.14802/jmd.24034    [Accepted]
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PDF
Case Report
Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine GY Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R. Morris, Eng-King Tan, Adeline SL Ng
J Mov Disord. 2024;17(2):213-217.   Published online January 31, 2024
DOI: https://doi.org/10.14802/jmd.24009
  • 1,675 View
  • 62 Download
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Citations

Citations to this article as recorded by  
  • Parkinson’s Disease is Predominantly a Genetic Disease
    Shen-Yang Lim, Christine Klein
    Journal of Parkinson's Disease.2024; 14(3): 467.     CrossRef
Review Article
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
J Mov Disord. 2023;16(3):231-247.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23065
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  • 239 Download
AbstractAbstract PDFSupplementary Material
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
Original Articles
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
J Mov Disord. 2023;16(3):285-294.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23035
  • 2,931 View
  • 174 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods
aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.
Results
aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes.
Conclusion
aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.

Citations

Citations to this article as recorded by  
  • Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
    Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
    Parkinsonism & Related Disorders.2024; 120: 105986.     CrossRef
Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study
Sung-Pin Fan, Yih-Chih Kuo, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Yu-Hsuan Huang, Han-I Lin, Tai-Chung Tseng, Tung-Hung Su, Shiou-Ru Tzeng, Chien-Ting Hsu, Huey-Ling Chen, Chin-Hsien Lin, Yen-Hsuan Ni
J Mov Disord. 2023;16(2):168-179.   Published online March 6, 2023
DOI: https://doi.org/10.14802/jmd.22161
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  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
aaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort.
Methods
aaMedical records of WD patients diagnosed from 2006–2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes.
Results
aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations.
Conclusion
aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.

Citations

Citations to this article as recorded by  
  • ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease
    Orhan Gorukmez, Taner Özgür, Ozlem Gorukmez, Ali Topak
    Fetal and Pediatric Pathology.2023; 42(6): 891.     CrossRef
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
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  • 511 Download
  • 3 Web of Science
  • 3 Crossref
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.

Citations

Citations to this article as recorded by  
  • Genetic Testing of Movements Disorders: A Review of Clinical Utility
    Dennis Yeow, Laura I. Rudaks, Sue-Faye Siow, Ryan L. Davis, Kishore R. Kumar
    Tremor and Other Hyperkinetic Movements.2024;[Epub]     CrossRef
  • Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India
    Vikram V. Holla, Sandeep Gurram, Sneha D. Kamath, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
    Journal of Movement Disorders.2024; 17(2): 220.     CrossRef
  • Rehabilitation in ataxia
    Anupam Gupta, NavinB Prakash, Hafis Rahman
    Indian Journal of Physical Medicine & Rehabilitation.2023; 33(1): 21.     CrossRef
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
  • 2,523 View
  • 94 Download
  • 3 Web of Science
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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  
  • Imaging Procedure and Clinical Studies of [18F]FP-CIT PET
    Changhwan Sung, Seung Jun Oh, Jae Seung Kim
    Nuclear Medicine and Molecular Imaging.2024;[Epub]     CrossRef
  • Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria
    Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, Neil Q. McDonald, Veronika Chernuha, Orly Elpeleg, Massimo Zeviani, Roger A. Barker, Ronen Spiegel, Heike Laman
    The FEBS Journal.2024;[Epub]     CrossRef
  • 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
  • 22,430 View
  • 325 Download
  • 8 Web of Science
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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  
  • Genome-wide determinants of mortality and motor progression in Parkinson’s disease
    Manuela M. X. Tan, Michael A. Lawton, Miriam I. Pollard, Emmeline Brown, Raquel Real, Alejandro Martinez Carrasco, Samir Bekadar, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Leon Hubbard, Naveed Malek, Katherin
    npj Parkinson's Disease.2024;[Epub]     CrossRef
  • Tinetti balance performance is associated with mortality in older adults with late-onset Parkinson’s disease: a longitudinal study
    Louise Laurent, Pierre Koskas, Janina Estrada, Mélanie Sebbagh, Sophie Lacaille, Agathe Raynaud-Simon, Matthieu Lilamand
    BMC Geriatrics.2023;[Epub]     CrossRef
  • Letter in response to Cole-Hunter et al., 2023: What does “Parkinson’s disease mortality” mean?
    Isabell Katharina Rumrich, Valtteri Kaasinen, Otto Hänninen, Sirpa Hartikainen, Anna-Maija Tolppanen
    Environment International.2023; 173: 107852.     CrossRef
  • Differences in Survival across Monogenic Forms of Parkinson's Disease
    Aymeric Lanore, Fanny Casse, Christelle Tesson, Thomas Courtin, Poornima Jayadev Menon, Sara Sambin, Graziella Mangone, Louise‐Laure Mariani, Suzanne Lesage, Alexis Brice, Alexis Elbaz, Jean‐Christophe Corvol
    Annals of Neurology.2023; 94(1): 123.     CrossRef
  • Case‐Fatality Rate in Parkinson's Disease: A Nationwide Registry Study
    Jussi O.T. Sipilä, Valtteri Kaasinen, Päivi Rautava, Ville Kytö
    Movement Disorders Clinical Practice.2023;[Epub]     CrossRef
  • 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
    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
  • 6,240 View
  • 158 Download
  • 6 Web of Science
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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

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  • Genome sequencing reanalysis increases the diagnostic yield in dystonia
    Avi Fellner, Gurusidheshwar M. Wali, Neil Mahant, Bianca R. Grosz, Melina Ellis, Ramesh K. Narayanan, Karl Ng, Ryan L. Davis, Michel C. Tchan, Katya Kotschet, Dennis Yeow, Laura I. Rudaks, Sue-Faye Siow, Gautam Wali, Con Yiannikas, Matthew Hobbs, Joseph C
    Parkinsonism & Related Disorders.2024; 124: 107010.     CrossRef
  • 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
  • 14,013 View
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  • 32 Web of Science
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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

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  • The Role of Diet in Parkinson’s Disease
    Kira N. Tosefsky, Julie Zhu, Yolanda N. Wang, Joyce S.T. Lam, Amanda Cammalleri, Silke Appel-Cresswell
    Journal of Parkinson's Disease.2024; : 1.     CrossRef
  • Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation
    Mohamed Zahir Alimohamed, Angela Augustine Siima, Mohamed Manji
    Frontiers in Neuroscience.2024;[Epub]     CrossRef
  • Epidemiology of Parkinson’s Disease: An Update
    Juan R Deliz, Caroline M. Tanner, Paulina Gonzalez-Latapi
    Current Neurology and Neuroscience Reports.2024; 24(6): 163.     CrossRef
  • 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
  • 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.2023; 23(134): 85.     CrossRef
  • The Gaps and Prospects of Movement Disorders Education and Research in Africa: A Continental Survey
    Eman Hamid, Kigocha Okengo, Biniyam A. Ayele, Daniel Gams Massi, Samia Ben Sassi, Houyam Tibar, Sarah Misbah El‐Sadig, Soulaimane Mahoui, Julien Razafimahefa, Ange Eric Kouame‐Assouan, Djibrilla Ben‐Adji, Lengane Y.T. Modeste, Muhyadin Hassan Mohamed, Nes
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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
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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.

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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
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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
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  • 13 Crossref
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
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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.

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