Journal of Movement Disorders

Case Reports

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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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

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?: Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2021;14(1):65-69. Published online October 31, 2020; DOI: https://doi.org/10.14802/jmd.20083

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Abstract PDF Supplementary Material

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

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Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
Sung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, Tung-Ming Chang, Sung-Pin Fan, Wan-De Huang, Yea-Huey Lin, Li-Kai Tsai, Yin-Hsiu Chien, Ming-Jen Lee, Wuh-Liang Hwu, Hsueh Wen Hsueh, Chih-Chao Yang
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef
Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I
Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying Wu
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef
Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation
Jingjing Lin, Yun‐Lu Li, Bo‐Li Chen, Hui‐Zhen Su, Yi‐Heng Zeng, Rui‐Huang Zeng, Yu‐Duo Zhang, Ru‐Kai Chen, Nai‐Qing Cai, Yi‐Kun Chen, Ru‐Ying Yuan, Jun‐Yi Jiang, Xiang‐Ping Yao, Ning Wang, Wan‐Jin Chen, Kang Yang
Annals of Clinical and Translational Neurology.2024; 11(11): 2998. CrossRef
A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT
Kalyan Kumar Jena, Sourav Kumar Bhoi, Debasis Mohapatra, Chittaranjan Mallick, Kshira Sagar Sahoo, Anand Nayyar
Wireless Networks.2023; 29(1): 247. CrossRef

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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Presenilin Gene Mutation-associated Psychosis
Mark A. Colijn, Zahinoor Ismail
Alzheimer Disease & Associated Disorders.2024; 38(1): 101. CrossRef
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
Yueting Chen, Peng Liu, Fei Xie, Bo Wang, Zhiru Lin, Wei Luo
Neurological Sciences.2022; 43(2): 1405. CrossRef
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update
Lara M. Lange, Paulina Gonzalez‐Latapi, Rajasumi Rajalingam, Marina A.J. Tijssen, Darius Ebrahimi‐Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R. Kumar, Anthony E. Lang, Malco Rossi, Sterre van der Veen, Bart van de Warrenburg, Tom Warner
Movement Disorders.2022; 37(5): 905. CrossRef
Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization
Miren Altuna, Rosa Larumbe, María Victoria Zelaya, Sira Moreno, Virginia García-Solaesa, Maite Mendioroz, María Antonia Ramos, María Elena Erro
Journal of Neurology.2022; 269(9): 4853. CrossRef
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene
Jaya Bagaria, Eva Bagyinszky, Seong Soo A. An
International Journal of Molecular Sciences.2022; 23(18): 10970. CrossRef
Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Matias Wagner, Ariane Sadr‐Nabavi, Felix Distelmaier, Martin Krenn, Tereza Serranová, Irena Rektorová, Petra Havránková, Alexandra Mosejová, Iva Příhodová, Jana Šarlá
Movement Disorders.2021; 36(8): 1959. CrossRef
PET/MRI Delivers Multimodal Brain Signature in Alzheimer’s Disease with De Novo PSEN1 Mutation
Gayane Aghakhanyan, Dorothee Saur, Michael Rullmann, Christopher M. Weise, Matthias L. Schroeter, Ken Marek, Rami Abou Jamra, Solveig Tiepolt, Maria Strauss, Cordula Scherlach, Karl-Titus Hoffmann, Osama Sabri, Joseph Classen, Henryk Barthel
Current Alzheimer Research.2021; 18(2): 178. CrossRef
Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation
Yury Seliverstov, Ilya Kanivets, Sergey Illarioshkin
The Cerebellum.2020; 19(5): 744. CrossRef
NetCore: a network propagation approach using node coreness
Gal Barel, Ralf Herwig
Nucleic Acids Research.2020; 48(17): e98. CrossRef
Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer’s Disease with De Novo PSEN1 Mutation
Jia Liu, Qianqian Wang, Donglai Jing, Ran Gao, Jing Zhang, Chunlei Cui, Hongwen Qiao, Zhigang Liang, Chaodong Wang, Pedro Rosa-Neto, Liyong Wu, Jianping Jia, Serge Gauthier
Journal of Alzheimer's Disease.2019; 68(2): 551. CrossRef
A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD
Kaloyan R. Stoychev, Maya Stoimenova-Popova, Petranka Chumpalova, Lilia Ilieva, Mohamed Swamad, Zornitsa Kamburova-Martinova
Frontiers in Psychiatry.2019;[Epub] CrossRef
Deficiency in the transcription factor NRF2 worsens inflammatory parameters in a mouse model with combined tauopathy and amyloidopathy
Ana I. Rojo, Marta Pajares, Angel J. García-Yagüe, Izaskun Buendia, Fred Van Leuven, Masayuki Yamamoto, Manuela G. López, Antonio Cuadrado
Redox Biology.2018; 18: 173. CrossRef

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