Journal of Movement Disorders

Original Articles

Impact of Additional Occipital Involvement in Parkinson’s Disease With Posterior Cortical Hypoperfusion: Chan Wook Park, Su Hong Kim, Phil Hyu Lee, Yun Joong Kim, Young H. Sohn, Yong Jeong, Seok Jong Chung; J Mov Disord. 2026;19(1):58-66. Published online November 7, 2025; DOI: https://doi.org/10.14802/jmd.25231

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Abstract PDF Supplementary Material: Objective
This study aims to investigate the clinical relevance of occipital hypoperfusion in patients with Parkinson’s disease (PD) with respect to clinical phenotype and the risk of dementia conversion.
Methods
We enrolled 349 patients with newly diagnosed PD and 48 healthy controls who underwent dual-phase ¹⁸F-N-(3-fluoropropyl)-2β-carboxymethoxy-3β-(4-iodophenyl) nortropane (¹⁸F-FP-CIT) positron emission tomography (PET). Patients with PD were classified into three groups based on posterior cortical perfusion patterns on early-phase ¹⁸F-FP-CIT PET images: PD with preserved posterior cortical perfusion (n=186), PD with parieto-temporal hypoperfusion (n=84), and PD with parieto-temporo-occipital hypoperfusion (n=79). Baseline clinical features and dementia conversion risk were compared across PD groups.
Results
Patients with preserved posterior cortical perfusion were younger than those in the other PD groups. Compared with the other groups, the parieto-temporo-occipital hypoperfusion group tended to have lower Cross-Cultural Smell Identification Test scores, a higher prevalence of rapid eye movement sleep behavior disorder, higher Unified PD Rating Scale motor scores, and more severe reductions in striatal dopamine transporter availability. The risk of dementia conversion was lower in patients with preserved posterior cortical perfusion than in those with posterior cortical hypoperfusion. However, the risk of dementia conversion did not differ between the parieto-temporal and parieto-temporo-occipital hypoperfusion groups.
Conclusion
Additional occipital hypoperfusion was not associated with an imminent risk of dementia conversion in patients with PD with posterior cortical hypoperfusion. Nonetheless, occipital involvement may serve as an indicator of the diffuse malignant subtype of PD.

Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect: Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouider; J Mov Disord. 2024;17(2):158-170. Published online January 30, 2024; DOI: https://doi.org/10.14802/jmd.23178

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Objective
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder encompassing several phenotypes with various motor and cognitive deficits. We aimed to study motor and cognitive characteristics across PSP phenotypes and to assess the influence of apolipoprotein E (APOE) gene variants on PSP phenotypic expression.
Methods
In this 20-year cross-sectional study, we retrospectively reviewed the charts of all patients classified as PSP patients and recategorized them according to phenotype using the Movement Disorder Society criteria (2017). Phenotypes were divided into three subgroups, Richardson’s syndrome (PSP-RS), PSP-cortical (PSP with predominant frontal presentation [PSP-F] + PSP with predominant speech/language disorder [PSP-SL] + PSP with predominant corticobasal syndrome [PSP-CBS]) and PSP-subcortical (PSP with predominant parkinsonism [PSP-P] + PSP with progressive gait freezing [PSP-PGF] + PSP with predominant postural instability [PSP-PI] + PSP with predominant ocular motor dysfunction [PSP-OM] + PSP with cerebellar ataxia [PSP-C] + PSP with primary lateral sclerosis [PSP-PLS]), based on clinical presentation during the first 3 years after symptom onset, which defines the early disease stage. Clinical and neuropsychological assessment data were collected. Genotyping of APOE was performed using restriction fragment length polymorphism polymerase chain reaction and verified by Sanger sequencing.
Results
We included 112 PSP patients comprising 10 phenotypes classified into 48 PSP-RS, 34 PSP-cortical (PSP-CBS, 17.6%; PSP-F, 9.4%; PSP-SL, 8.2%) and 30 PSP-subcortical (PSP-P, 11.6%; PSP-PI, 8%; PSP-OM, 2.7%; PSP-PGF, 1.8%; PSP-C, 1.8%; PSP-PLS, 0.9%) subgroups. PSP-RS patients were older at disease onset (p = 0.009) and had more akinetic-rigid and levodopa-resistant parkinsonism (p = 0.006), while PSP-cortical patients had more tremors and asymmetric and/or levodopa-responsive parkinsonism (p = 0.025). Cognitive domains were significantly less altered in the PSP-subcortical subgroup. Overall, PSP-APOEε4 carriers developed parkinsonism earlier (p = 0.038), had earlier oculomotor dysfunction (p = 0.052) and had more altered cognitive profiles. The APOEε4 allele was also associated with a younger age of parkinsonism onset in the PSP-RS phenotype group (p = 0.026).
Conclusion
This study demonstrated the wide phenotypic spectrum of PSP among Tunisians. Disease onset and akinetic-rigid and levodopa-resistant parkinsonism were the hallmarks of the PSP-RS phenotype, while milder cognitive impairment was characteristic of the PSP-subcortical subgroup. The APOEε4 allele was associated with earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.

Citations

Citations to this article as recorded by

Motor and non-motor features in progressive supranuclear palsy: the impact of microtubule associated protein tau haplotypes among a Tunisian cohort
Youssef Abida, Ikram Sghaier, Amira Souissi, Alya Gharbi, Amina Nasri, Oumeyma Belkehia, Imen Kacem, Amina Gargouri-Berrachid, Riadh Gouider
Journal of Neural Transmission.2026; 133(3): 423. CrossRef
Progressive Supranuclear Palsy—A Global Review
Prashanth Lingappa Kukkle, Rosy Neupane, Alexandar Pantelyat, Anne‐Marie Wills, Ed Jabbari, Elise G.P. Dopper, Gabor G. Kovacs, Gunther Hoglinger, Ikuko Aiba, Irene Litvan, Jacky Ganguly, Jennifer L. Whitwell, Jinghong Ma, Kigocha Okeng’O, Ryuji Skakibara
Movement Disorders Clinical Practice.2026; 13(3): 611. CrossRef
The Spectrum of Cognitive Impairment in Atypical Parkinsonism Syndromes: A Comprehensive Review of Current Understanding and Research
Kurt A. Jellinger
Diseases.2025; 13(2): 39. CrossRef
Pathomechanisms of neuropsychiatric disturbances in atypical parkinsonian disorders: a current view
Kurt A. Jellinger
Journal of Neural Transmission.2025; 132(4): 495. CrossRef
A possible role of Apolipoprotein E in Idiopathic Generalized Epilepsy
Maria Kabbage, Saloua Mrabet, Maha Mounadi, Alya Gharbi, Amal Atrous, Istabrak Abdelkefi, Amina Gargouri-Berrechid, Riadh Gouider
Epilepsy & Behavior.2025; 172: 110554. CrossRef
Comorbid pathologies and their impact on progressive supranuclear palsy: current view
Kurt A. Jellinger
Journal of Neural Transmission.2025;[Epub] CrossRef
Differences in neuropsychological performance across clinical variants of progressive supranuclear palsy
Elizabeth A. Boots, Stephen D. Weigand, Nha Trang Thu Pham, Farwa Ali, Heather M. Clark, Julie A. Stierwalt, Hugo Botha, Sarah M. Boland, Yehkyoung C. Stephens, Keith A. Josephs, Jennifer L. Whitwell, Mary M. Machulda
Journal of the International Neuropsychological Society.2025; 31(5-6): 384. CrossRef
Clinical and molecular predictors of survival among atypical parkinsonian syndromes in a North African tertiary referral center
Ikram Sghaier, Amina Nasri, Amal Atrous, Youssef Abida, Alya Gharbi, Amira Souissi, Saloua Mrabet, Mouna Ben Djebara, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider
Journal of the Neurological Sciences.2024; 464: 123155. CrossRef

Reorganization of the Human Somatosensory Cortex in Hand Dystonia: Maria Jose Catalan, Kenji Ishii, William Bara-Jimenez, Mark Hallett; J Mov Disord. 2012;5(1):5-8.; DOI: https://doi.org/10.14802/jmd.12002

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Abstract PDF

Background and Purpose:

Abnormalities of finger representations in the somatosensory cortex have been identified in patients with focal hand dystonia. Measuring blood flow with positron emission tomography (PET) can be use to demonstrate functional localization of receptive fields.

Methods:

A vibratory stimulus was applied to the right thumb and little finger of six healthy volunteers and six patients with focal hand dystonia to map their receptive fields using H₂¹⁵O PET.

Results:

The cortical finger representations in the primary somatosensory cortex were closer to each other in patients than in normal subjects. No abnormalities were found in secondary somatosensory cortex, but the somatotopy there is less well distinguished.

Conclusions:

These data confirm prior electrophysiological and functional neuroimaging observations showing abnormalities of finger representations in somatosensory cortex of patients with focal hand dystonia.

Citations

Citations to this article as recorded by

Motor and sensory neurophysiology in relation to [18F]FDG PET imaging in children with dystonia
Stavros Tsagkaris, Verity McClelland, Doreen Fialho, Daniel E Lumsden, Margaret Kaminska, Eric Guedj, Alexander Hammers, Jean-Pierre Lin
Brain Communications.2025;[Epub] CrossRef
Laminar VASO fMRI in focal hand dystonia patients
Laurentius Huber, Panagiotis Kassavetis, Omer Faruk Gulban, Mark Hallett, Silvina G. Horovitz
Dystonia.2023;[Epub] CrossRef
Sensory Alterations in Patients with Isolated Idiopathic Dystonia: An Exploratory Quantitative Sensory Testing Analysis
Lejla Paracka, Florian Wegner, Christian Blahak, Mahmoud Abdallat, Assel Saryyeva, Dirk Dressler, Matthias Karst, Joachim K. Krauss
Frontiers in Neurology.2017;[Epub] CrossRef

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