Journal of Movement Disorders

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

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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.

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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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Abstract PDF Supplementary 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

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Abstract PDF Supplementary 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.

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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

Reliability and Validity of the Embouchure Dystonia Severity Rating Scale: Tobias Mantel, André Lee, Shinichi Furuya, Masanori Morise, Eckart Altenmüller, Bernhard Haslinger; J Mov Disord. 2023;16(2):191-195. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.22213

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Abstract PDF Supplementary Material: Objective
Embouchure dystonia (ED) is a task-specific movement disorder that leads to loss of fine motor control of the embouchure and tongue muscles in wind musicians. In contrast to musicians’ hand dystonia, no validated severity rating for ED exists, posing a major obstacle for structured assessment in scientific and clinical settings. The aim of this study is to validate an ED severity rating scale (EDSRS) allowing for a standardized estimation of symptom severity in ED.
Methods
The EDSRS was set up as a composite score of six items evaluating audio-visual disease symptoms during the performance of three standardized musical tasks (sustained notes, scales, and fourths) separately for each body side. For validation, 17 musicians with ED underwent standardized audiovisual recordings during performance. Anonymized and randomized recordings were assessed by two experts in ED (raters). Statistical analysis included metrics of consistency, reliability, and construct validity with the fluctuation of the fundamental frequency of the acoustic signal (F0) (extracted in an audio analysis of the sustained notes).
Results
The EDSRS showed high internal consistency (Cronbach’s α = 0.975−0.983, corrected item-total correlations r = 0.90−0.96), interrater reliability (intraclass correlation coefficient [ICC] for agreement/consistency = 0.94/0.96), intrarater reliability over time (ICC per rater = 0.93/0.87) and good precision (standard error of measurement = 2.19/2.65), and correlated significantly with F0 variability (r = 0.55–0.60, p = 0.011–0.023).
Conclusion
The developed EDSRS is a valid and reliable tool for the assessment of ED severity in the hands of trained expert raters. Its easy applicability makes it suitable not only for routine clinical practice but also for scientific studies.

The Clinical Characterization of Blocking Tics in Patients With Tourette Syndrome: José Fidel Baizabal-Carvallo, Joseph Jankovic; J Mov Disord. 2023;16(2):163-167. Published online March 7, 2023; DOI: https://doi.org/10.14802/jmd.22122

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Abstract PDF Supplementary Material

Objective
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by the presence of motor and phonic tics. Blocking phenomena, characterized by arrests in motor activity causing interruptions in movements or speech, have also been described in patients with TS. In this study, we aimed to characterize the frequency and features of blocking tics in patients with TS.
Methods
We studied a cohort of 201 patients with TS evaluated at our movement disorders clinic.
Results
We identified 12 (6%) patients with blocking phenomena. Phonic tic intrusion causing speech arrest was the most common (n = 8, 4%), followed by sustained isometric muscle contractions arresting body movements (n = 4, 2%). The following variables were statistically related to blocking phenomena: shoulder tics, leg tics, copropraxia, dystonic tics, simple phonic tics, and number of phonic tics per patient (all p < 0.050). In the multivariate regression, the presence of dystonic tics (p = 0.014) and a higher number of phonic tics (p = 0.022) were associated with blocking phenomena.
Conclusion
Blocking phenomena are present in approximately 6% of patients with TS, and the presence of dystonic tics and a higher frequency and number of phonic tics increase the risk for these phenomena.

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Tics emergencies and malignant tourette syndrome: Assessment and management
José Fidel Baizabal-Carvallo, Andrea E. Cavanna, Joseph Jankovic
Neuroscience & Biobehavioral Reviews.2024; 159: 105609. CrossRef
Oromandibular tics associated with Tourette syndrome
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Joseph Jankovic
Journal of Neurology.2023; 270(5): 2591. 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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Abstract PDF Supplementary 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.

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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

Premonitory Urges Reconsidered: Urge Location Corresponds to Tic Location in Patients With Primary Tic Disorders: Jana Essing, Ewgeni Jakubovski, Nikolas Psathakis, Sinan N Cevirme, James F Leckman, Kirsten R Müller-Vahl; J Mov Disord. 2022;15(1):43-52. Published online January 25, 2022; DOI: https://doi.org/10.14802/jmd.21045

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Abstract PDF Supplementary Material

Objective
In patients with Tourette syndrome and other primary tic disorders (PTDs), tics are typically preceded by premonitory urges (PUs). To date, only a few studies have investigated the location and frequency of PUs, and contrary to clinical experience, the results suggest that PUs are not located in the same anatomic region as the tics. This study aimed to further explore PU location and frequency in detail, differentiating the kind and complexity of the corresponding tics, in a large sample of patients with PTD.
Methods
A total of 291 adult (≥ 18 years) patients with a confirmed diagnosis of chronic PTD were included. The study was conducted online, assement included tics and the general characterization of PUs and a sophisticated body drawing for locating PUs.
Results
We found that PUs were located in the same body area as, or in direct proximity to, the corresponding tic. Most frequently, PUs were located in the face and at the head (62.1%). Compared with simple tics, complex (motor and vocal) tics were more often preceded by a PU; but there was no difference in PU frequency observed between motor tics and vocal tics. PUs were more often experienced at the front than at the back of the body (73% vs. 27%), while there was no difference between the right and left sides (41.6% vs. 41.3%).
Conclusion
The strong association between PU and tic location further supports the hypothesis that PUs represent the core of PTD. Accordingly, future therapies should focus on treating PUs to achieve greater tic reduction.

Citations

Citations to this article as recorded by

Functional Tic‐Like Behaviors: A Common Comorbidity in Patients with Tourette Syndrome
Kirsten R. Müller‐Vahl, Anna Pisarenko, Carolin Fremer, Martina Haas, Ewgeni Jakubovski, Natalia Szejko
Movement Disorders Clinical Practice.2024; 11(3): 227. CrossRef
Parent-Report Sleep Disturbances and Everyday Executive Functioning Difficulties in Children with Tourette Syndrome
Lisa Keenan, Jessica Bramham, Michelle Downes
Developmental Neuropsychology.2024; 49(1): 39. CrossRef
Premonitory Urge in Patients with Tics and Functional Tic‐like Behaviors
Natalia Szejko, Julian Fletcher, Davide Martino, Tamara Pringsheim
Movement Disorders Clinical Practice.2024; 11(3): 276. CrossRef
A meta-analysis of transcranial magnetic stimulation in Tourette syndrome
Elizabeth R. Steuber, Joseph F. McGuire
Journal of Psychiatric Research.2024; 173: 34. CrossRef
Premonitory Urge and Tic Severity, Comorbidities, and Quality of Life in Chronic Tic Disorders
Valerie Brandt, Jana Essing, Ewgeni Jakubovski, Kirsten Müller‐Vahl
Movement Disorders Clinical Practice.2023; 10(6): 922. CrossRef
Motor awareness, volition, and the cortical neurophysiology of simple motor tics
Aysegul Gunduz, Christos Ganos
Clinical Neurophysiology.2023; 151: 130. CrossRef
Tourette syndrome research highlights from 2022
Andreas Hartmann, Per Andrén, Cyril Atkinson-Clément, Virginie Czernecki, Cécile Delorme, Nanette Marinette Monique Debes, Kirsten Müller-Vahl, Peristera Paschou, Natalia Szejko, Apostolia Topaloudi, Keisuke Ueda, Kevin J. Black
F1000Research.2023; 12: 826. CrossRef
Tourette syndrome research highlights from 2022
Andreas Hartmann, Per Andrén, Cyril Atkinson-Clément, Virginie Czernecki, Cécile Delorme, Nanette Marinette Monique Debes, Kirsten Müller-Vahl, Peristera Paschou, Natalia Szejko, Apostolia Topaloudi, Keisuke Ueda, Kevin J. Black
F1000Research.2023; 12: 826. CrossRef
Door-To-Door Video-Enhanced Prevalence Study of Tourette Disorder Among African Americans
Catherine Striley, Kevin J. Black, Natalie E. Chichetto, Lauren Vagelakos
Evidence-Based Practice in Child and Adolescent Mental Health.2023; : 1. CrossRef
Clinical evaluation of premonitory urges in children and adolescents using the Chinese version of Individualized Premonitory Urge for Tics Scale
Guanghua Che, Wenjing Ren, Joseph F. McGuire, Ping Li, Zhiruo Zhao, Jing Tian, Jinyuan Zhang, Yue Zhang
Frontiers in Psychiatry.2023;[Epub] CrossRef
Mass social media-induced illness presenting with Tourette-like behavior
Carolin Fremer, Natalia Szejko, Anna Pisarenko, Martina Haas, Luise Laudenbach, Claudia Wegener, Kirsten R. Müller-Vahl
Frontiers in Psychiatry.2022;[Epub] CrossRef
Tics bei Erwachsenen
Tina Rawish, Gesine Sallandt, Alexander Münchau
NeuroTransmitter.2022; 33(12): 38. CrossRef

Brief communication

Phonatory Characteristics of Male Patients with Classic Essential Tremor: Preetie Shetty Akkunje, Belur Keshavaprasad Yamini, Ravi Yadav, Nagarajarao Shivashankar, Palash Kumar Malo, Kandavel Thennarasu, Shantala Hegde, Pramod Kumar Pal; J Mov Disord. 2021;14(3):226-230. Published online August 18, 2021; DOI: https://doi.org/10.14802/jmd.21010

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Abstract PDF Supplementary Material

Objective
Voice tremor (VT) is one of the characteristics of essential tremor (ET). This study was designed to describe the group and phonatory characteristics of classic ET patients with VT.
Methods
This retrospective case-control study compared classic ET patients with age and sex-matched controls. The ET population was subgrouped based on auditory perceptual voice analysis. Electroglottography and acoustic voice samples obtained from both groups were analyzed for contact quotient (CQ) and multidimensional voice program parameters, i.e., fundamental frequency (F₀), perturbation, noise, and tremor parameters.
Results
The CQ, F₀, perturbation, noise, and tremor characteristics significantly increased from the moderate VT group to the severe VT group.
Conclusion
The CQ, F₀, and noise characteristics reflected the vocal folds’ functionality. The perturbation and tremor parameters variation were reasoned considering the tremor-related changes occurring in the laryngeal, vocal tract, and expiratory muscles in patients with ET. Thus, phonatory analysis may help in monitoring the progression of ET.

Citations

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Voice Analysis in Patients with Essential Tremor
Hakan Silek, Muzeyyen Dogan
Journal of Voice.2023;[Epub] 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

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Abstract PDF Supplementary 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.

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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 Article

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

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Abstract 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.

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Case Report

PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder: Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J. Farrer; J Mov Disord. 2018;11(1):45-48. Published online January 11, 2018; DOI: https://doi.org/10.14802/jmd.17066

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Abstract PDF

Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive. The results were analyzed using the AnnEx “Annotated Exomes” browser (http://annex.can.ubc.ca), a web-based platform that facilitates WES variant annotation and interpretation. High-throughput sequencing can be especially informative for complex neurological disorders, and WES warrants consideration as a first-line clinical test. Data analyses facilitated by web-based bioinformatics tools have great potential for novel insight, although confirmatory, diagnostically accredited Sanger sequencing is recommended prior to reporting.

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Movement Disorders.2021; 36(8): 1959. CrossRef
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Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation
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Original Article

Reduced Neck Muscle Strength and Altered Muscle Mechanical Properties in Cervical Dystonia Following Botulinum Neurotoxin Injections: A Prospective Study: Sirpa Mustalampi, Jari Ylinen, Katariina Korniloff, Adam Weir, Arja H?kkinen; J Mov Disord. 2016;9(1):44-49. Published online January 25, 2016; DOI: https://doi.org/10.14802/jmd.15035

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Objective
To evaluate changes in the strength and mechanical properties of neck muscles and disability in patients with cervical dystonia (CD) during a 12-week period following botulinum neurotoxin (BoNT) injections.
Methods
Eight patients with CD volunteered for this prospective clinical cohort study. Patients had received BoNT injections regularly in neck muscles at three-month intervals for several years. Maximal isometric neck strength was measured by a dynamometer, and the mechanical properties of the splenius capitis were evaluated using two myotonometers. Clinical assessment was performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) before and at 2, 4, 8, and 12 weeks after the BoNT injections.
Results
Mean maximal isometric neck strength at two weeks after the BoNT injections decreased by 28% in extension, 25% in rotation of the affected side and 17% in flexion. At four weeks, muscle stiffness of the affected side decreased by 17% and tension decreased by 6%. At eight weeks, the muscle elasticity on the affected side increased by 12%. At two weeks after the BoNT injections, the TWSTRS-severity and TWSTRS-total scores decreased by 4.3 and 6.4, respectively. The strength, muscle mechanical properties and TWSTRS scores returned to baseline values at 12 weeks.
Conclusions
Although maximal neck strength and muscle tone decreased after BoNT injections, the disability improved. The changes observed after BoNT injections were temporary and returned to pre-injection levels within twelve weeks. Despite having a possible negative effect on function and decreasing neck strength, the BoNT injections improved the patients reported disability.

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Review Articles

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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Abstract 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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Genetic Architecture of Primary Tauopathies
Daniel Gallo, Agustín Ruiz, Pascual Sánchez-Juan
Neuroscience.2023; 518: 27. CrossRef
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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Rowan A. W. Radford, Stephanie L. Rayner, Paulina Szwaja, Marco Morsch, Flora Cheng, Tianyi Zhu, Jocelyn Widagdo, Victor Anggono, Dean L. Pountney, Roger Chung, Albert Lee
Journal of Neurochemistry.2023; 165(4): 563. CrossRef
Pathomechanisms of cognitive impairment in progressive supranuclear palsy
Kurt A. Jellinger
Journal of Neural Transmission.2023; 130(4): 481. CrossRef
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Patrycja Krzosek, Natalia Madetko, Anna Migda, Bartosz Migda, Dominika Jaguś, Piotr Alster
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Alexander Fröhlich, Abigail L. Pfaff, Vivien J. Bubb, Sulev Koks, John P. Quinn
Frontiers in Molecular Neuroscience.2022;[Epub] CrossRef
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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
MAPT gene mutation in familiar progressive supranuclear palsy, a case report
M. Rodríguez, H. Kreinter, N. Zapa, O. Oliveros, C. Jiménez
Neurology Perspectives.2022; 2(3): 184. CrossRef
Investigational therapeutics for the treatment of progressive supranuclear palsy
David G Coughlin, Irene Litvan
Expert Opinion on Investigational Drugs.2022; 31(8): 813. CrossRef
Mass spectrometry‐based proteomics analysis of human globus pallidus from progressive supranuclear palsy patients discovers multiple disease pathways
Yura Jang, Thujitha Thuraisamy, Javier Redding‐Ochoa, Olga Pletnikova, Juan C. Troncoso, Zhen Zhang, Liana S. Rosenthal, Ted M. Dawson, Alexander Y. Pantelyat, Chan Hyun Na
Clinical and Translational Medicine.2022;[Epub] CrossRef
Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
Abigail L. Pfaff, Vivien J. Bubb, John P. Quinn, Sulev Koks
npj Parkinson's Disease.2021;[Epub] CrossRef
Cellular and pathological heterogeneity of primary tauopathies
Dah-eun Chloe Chung, Shanu Roemer, Leonard Petrucelli, Dennis W. Dickson
Molecular Neurodegeneration.2021;[Epub] CrossRef
Tau and MAPT genetics in tauopathies and synucleinopathies
Etienne Leveille, Owen A. Ross, Ziv Gan-Or
Parkinsonism & Related Disorders.2021; 90: 142. CrossRef
Optimizing intracellular antibodies (intrabodies/nanobodies) to treat neurodegenerative disorders
Anne Messer, David C. Butler
Neurobiology of Disease.2020; 134: 104619. CrossRef
Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons
Carolina Alquezar, Jessica B. Felix, Elizabeth McCandlish, Brian T. Buckley, Dominique Caparros-Lefebvre, Celeste M. Karch, Lawrence I. Golbe, Aimee W. Kao
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
Neuro-ophthalmology in the Geriatric Eye
Subhan Tabba, Yi-Hsien Yeh, Ashwini Kini, Bayan Al Othman, Andrew G Lee
US Ophthalmic Review.2020; 13(1): 30. CrossRef
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
Tremor and Other Hyperkinetic Movements.2020; 10: 4. CrossRef
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
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International Journal of Molecular Sciences.2018; 19(4): 1092. CrossRef
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci
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Molecular Neurodegeneration.2018;[Epub] CrossRef
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Zelah Joel, Pablo Izquierdo, Dervis A. Salih, Jill C. Richardson, Damian M. Cummings, Frances A. Edwards
Cold Spring Harbor Symposia on Quantitative Biology.2018; 83: 151. CrossRef
Signature of an aggregation-prone conformation of tau
Neil A. Eschmann, Elka R. Georgieva, Pritam Ganguly, Peter P. Borbat, Maxime D. Rappaport, Yasar Akdogan, Jack H. Freed, Joan-Emma Shea, Songi Han
Scientific Reports.2017;[Epub] CrossRef
Chronic traumatic encephalopathy-integration of canonical traumatic brain injury secondary injury mechanisms with tau pathology
Jacqueline R. Kulbe, Edward D. Hall
Progress in Neurobiology.2017; 158: 15. CrossRef
MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17)
Robert Haussmann, Marek Wysocki, Moritz D. Brandt, Andreas Hermann, Markus Donix
International Psychogeriatrics.2017; 29(5): 869. CrossRef
Progressieve supranucleaire parese
Peter van Domburg
Neuropraxis.2016; 20(2): 68. CrossRef
Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci
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Acta Neuropathologica.2016; 132(2): 197. CrossRef
Current status of biomarker research in neurology
Jiri Polivka, Jiri Polivka, Kristyna Krakorova, Marek Peterka, Ondrej Topolcan
EPMA Journal.2016;[Epub] CrossRef
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Irene López González, Paula Garcia-Esparcia, Franc Llorens, Isidre Ferrer
International Journal of Molecular Sciences.2016; 17(2): 206. CrossRef
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories
Pawel Tacik, Monica Sanchez-Contreras, Rosa Rademakers, Dennis W. Dickson, Zbigniew K. Wszolek
Neurodegenerative Diseases.2016; 16(1-2): 12. CrossRef

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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Abstract 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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Biomedicine & Pharmacotherapy.2022; 147: 112629. CrossRef
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Jie Meng, Fenglin Wang, Lei Ji, Yuhua Liang, Wei Nian, Lele Song, Aiqin Zhu
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Carmen Parra-Cid, Eduardo Orozco-Castillo, Julieta García-López, Elena Contreras-Figueroa, Laura E. Ramos-Languren, Clemente Ibarra, Alfonso Carreón-Rodríguez, Michael Aschner, Mina Königsberg, Abel Santamaría
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Brain Sciences.2020; 10(10): 713. CrossRef
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Ingrid González-Casacuberta, Diana Luz Juárez-Flores, Constanza Morén, Gloria Garrabou
Frontiers in Neuroscience.2019;[Epub] CrossRef
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Aging.2019; 11(11): 3750. CrossRef
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PLOS ONE.2016; 11(6): e0155758. CrossRef

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