Journal of Movement Disorders

Original Article

Retinal Thinning as a Marker of Disease Severity in Progressive Supranuclear Palsy: Yueting Chen, Haotian Wang, Bo Wang, Wenbo Li, Panpan Ye, Wen Xu, Peng Liu, Xinhui Chen, Zhidong Cen, Zhiyuan Ouyang, Sheng Wu, Xiaofeng Dou, Yi Liao, Hong Zhang, Mei Tian, Wei Luo; J Mov Disord. 2024;17(1):55-63. Published online September 26, 2023; DOI: https://doi.org/10.14802/jmd.23102

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Objective
Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities of the retina. However, the relationship between retinal structural changes, disease severity, and intracranial alterations remains unknown. We investigated distinct retinal thinning patterns and their relationship with clinical severity and intracranial alterations in a PSP cohort.
Methods
We enrolled 19 patients with PSP (38 eyes) and 20 age-matched healthy controls (40 eyes). All of the participants underwent peripapillary and macular optical coherence tomography. Brain ¹¹C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane (¹¹C-CFT) and ¹⁸F-fluorodeoxyglucose (¹⁸F-FDG) positron emission tomography imaging were also performed in patients with PSP. We investigated the association between retinal thickness changes and clinical features, striatal dopamine transporter availability, and cerebral glucose metabolism.
Results
The peripapillary retinal nerve fiber layer (pRNFL) and macula were significantly thinner in patients with PSP than in controls. The thickness of the superior sector of the pRNFL demonstrated a significant negative relationship with the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III and Hoehn and Yahr staging scale scores. A significant negative correlation was found between outer inferior macular thickness and disease duration. Outer temporal macular thickness was positively correlated with Montreal Cognitive Assessment scores. In PSP, lower outer temporal macular thickness was also positively correlated with decreased dopamine transporter binding in the caudate.
Conclusion
The pRNFL and macular thinning may be candidate markers for monitoring disease severity. Additionally, macular thinning may be an in vivo indicator of nigrostriatal dopaminergic cell degeneration in PSP patients.

Citations

Citations to this article as recorded by

Optical Coherence Tomography as a Biomarker in the Differential Diagnosis between Parkinson’s Disease and Atypical Parkinsonian Syndromes: A Narrative Review
Stella Karatzetzou, Dimitrios Parisis, Serafeim Ioannidis, Theodora Afrantou, Panagiotis Ioannidis
Applied Sciences.2024; 14(6): 2491. CrossRef
Spatial-temporal dynamic evolution of lewy body dementia by metabolic PET imaging
Jiaqi Niu, Yan Zhong, Le Xue, Haotian Wang, Daoyan Hu, Yi Liao, Xiaohui Zhang, Xiaofeng Dou, Congcong Yu, Bo Wang, Yuan Sun, Mei Tian, Hong Zhang, Jing Wang
European Journal of Nuclear Medicine and Molecular Imaging.2024; 52(1): 145. 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

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Abstract PDF Supplementary 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.

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Imaging Procedure and Clinical Studies of [18F]FP-CIT PET
Changhwan Sung, Seung Jun Oh, Jae Seung Kim
Nuclear Medicine and Molecular Imaging.2024; 58(4): 185. 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; 291(12): 2565. 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

Gender Differences in Age-Related Striatal Dopamine Depletion in Parkinson’s Disease: Jae Jung Lee, Jee Hyun Ham, Phil Hyu Lee, Young H. Sohn; J Mov Disord. 2015;8(3):130-135. Published online September 10, 2015; DOI: https://doi.org/10.14802/jmd.15031

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Abstract PDF Supplementary Material

Objective Gender differences are a well-known clinical characteristic of Parkinson’s disease (PD). In-vivo imaging studies demonstrated that women have greater striatal dopamine transporter (DAT) activity than do men, both in the normal population and in PD patients. We hypothesize that women exhibit more rapid aging-related striatal DAT reduction than do men, as the potential neuroprotective effect of estrogen wanes with age.
Methods This study included 307 de novo PD patients (152 men and 155 women) who underwent DAT scans for an initial diagnostic work-up. Gender differences in age-related DAT decline were assessed in striatal sub-regions using linear regression analysis.
Results Female patients exhibited greater DAT activity compared with male patients in all striatal sub-regions. The linear regression analysis revealed that age-related DAT decline was greater in the anterior and posterior caudate, and the anterior putamen in women compared with men; we did not observe this difference in other sub-regions.
Conclusions This study demonstrated the presence of gender differences in age-related DAT decline in striatal sub-regions, particularly in the antero-dorsal striatum, in patients with PD, presumably due to aging-related decrease in estrogen. Because this difference was not observed in the sensorimotor striatum, this finding also suggests that women may not have a greater capacity to tolerate PD pathogenesis than do men.

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Giovanni Palermo, Sara Giannoni, Gabriele Bellini, Gabriele Siciliano, Roberto Ceravolo
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Case Report

Restlessness with Manic Episodes due to Right Parietal Infarction: Suk Yun Kang, Jong Won Paik, Young Ho Sohn; J Mov Disord. 2010;3(1):22-24.; DOI: https://doi.org/10.14802/jmd.10007

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Abstract PDF

Mood disorders following acute stroke are relatively common. However, restlessness with manic episodes has rarely been reported. Lesions responsible for post-stroke mania can be located in the thalamus, caudate nucleus, and temporal and frontal lobes. We present a patient who exhibited restlessness with manic episodes after an acute infarction in the right parietal lobe, and summarize the case reports involving post-stroke mania. The right parietal stroke causing mania in our case is a novel observation that may help us to understand the mechanisms underlying restlessness with mania following acute stroke.

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Restlessness with manic episodes induced by right-sided multiple strokes after COVID-19 infection: A case report
Takahiko Nagamine
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Poststroke Mania During the COVID-19 Pandemic
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Invited Review

Positron Emission Tomography in the Differential Diagnosis of Parkinsonism: Juha O Rinne; J Mov Disord. 2009;2(2):53-57.; DOI: https://doi.org/10.14802/jmd.09015

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Abstract PDF

Positron emission tomography (PET) studies on presynaptic dopaminergic function can reveal hypofunction in early Parkinson’s disease (PD) which may help in the early diagnosis especially in patients with mild symptoms. This hypofunction can be detected with fluorodopa (reflecting mainly aromatic amino acid decarboxylase activity of nigrostriatal terminals) or dopamine transporter ligands. These studies can also help to distinguish PD from essential tremor. However, investigations of presynaptic dopaminergic function are not useful in the differential diagnosis of parkinsonian syndromes. PET ligands, such as fluorodeoxyglucose (reflecting glucose metabolism) and dopamine receptor ligands, reflecting striatal neuronal function are better in this respect. Cardiac sympathetic function studies represent a new and interesting approach to improve differential diagnosis of parkinsonian syndromes but more studies are needed in larger patient populations with longer follow-up to evaluate the usefulness of these investigations. Multitracer approach combining ligands reflecting different aspects of dopaminergic neurotransmission and other physiological function will increase differential diagnostic accuracy.

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Review Article

Microglial Imaging in Movement Disorders With PK11195 PET: Seong-Beom Koh; J Mov Disord. 2008;1(1):1-5.; DOI: https://doi.org/10.14802/jmd.08001

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Abstract PDF: Activated microglia play a major role in the pathogenesis in neurological disorders. The transition of microglia from the normal resting state to the activated state is associated with an increased expression of receptors known as peripheral benzodiazepine binding sites, which are abundant on cells of mononuclear phagocyte lineage. PK11195 is a ligand which binds selectively to peripheral benzodiazepine binding sites, a type of receptor selectively expressed by activated microglia in the central nervous system. The ¹¹C-(R)-PK11195 positron emission tomography (PET) is already applied to many kinds of neurological disorders, including neurodegenerative disorders, and can demonstrate the role of neuroinflammation in the pathogenesis of neurological disorders. And this imaging modality also provides a means to monitor potential clinical relevance of antiinflammatory treatment strategies in vivo. This article reviews some of the clinical applications of ¹¹C-(R)-PK11195 PET in the field of movement disorders.

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