Saskatchewan Movement Disorders Program

Rajput, Ali H.; Rajput, Alex

doi:10.1017/cjn.2015.13

Cited by 19 publications

(30 citation statements)

References 55 publications

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“…At an opportune time patients are asked to express desire for autopsy. There is no cost to the family or estate of the patient for autopsy study [24]. The patient is assured that this declaration would not impact ongoing care at the MDCS.…”

Section: Introductionmentioning

confidence: 97%

“…The SMDP and the MDCS have been conducted uninterrupted since 1968 by the same one or two neurologists [24]. Most patients are referred to the MDCS by family physicians.…”

Section: Introductionmentioning

confidence: 99%

“…Demographics, age, sex, mode and age of PS onset, treatment status, adverse effects, motor Unified Parkinson's Disease Scale (UPDRS) and Hoehn & Yahr (H&Y) stage are assessed at baseline, and a video is made on every consenting subject [25,26]. At each visit the patient is assessed by the same one or two Movement Disorders neurologists and clinical information and assessments pertinent to PS are made [24].…”

Section: Introductionmentioning

confidence: 99%

“…All patients seen at the MDCS between 1968 and 2015 that had diagnosis of PS with onset >80 years who came to autopsy were included in this study [23,24]. Some of our patients did not have formal education.…”

Section: Introductionmentioning

confidence: 99%

“…Original clinical data, videos, frozen half brains, remnants of formalin tissue, paraffin blocks and slides are preserved in our laboratory ( Figure 4). Final diagnosis of the PS variants is made by the treating neurologist considering all the clinical and pathology information [24].…”

Section: Introductionmentioning

confidence: 99%

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Parkinson's Disease in the Very Old - Clinicopathological Observations

Rajput¹,

Ef²

2017

Journal of Neuroscience and Neuropsychology

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Background:The incidence of Parkinson syndrome (PS) increases dramatically after age 80 years. As the number of the very old (>80 years) is rising in the population, the number of PS cases would increase. In the general population the most common variant of PS is the Parkinson's disease (PD). PD is characterized by marked loss of substantia nigra neurons and Lewy Body (LB) inclusions. All the pathological variants of PS in the elderly however remain unknown. The objective of this study was to determine the frequency of different PS variants and their course in the elderly individuals.

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Section: Introductionmentioning

confidence: 97%

“…The SMDP and the MDCS have been conducted uninterrupted since 1968 by the same one or two neurologists [24]. Most patients are referred to the MDCS by family physicians.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Parkinson's Disease in the Very Old - Clinicopathological Observations

Rajput¹,

Ef²

2017

Journal of Neuroscience and Neuropsychology

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Parkinsonism in essential tremor cases: A clinicopathological study

Rajput

Bocking

et al. 2019

Movement Disorders

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Background Essential tremor and Parkinson's syndrome are two common movement disorders that may co‐occur in some individuals. There is no diagnostic neuropathology for essential tremor, but in PD and other Parkinson's syndrome variants, the neuropathology is well known. The spectrum of Parkinson's syndrome variants associated with essential tremor, their clinical features, and course have not been determined in autopsy‐confirmed cases. Objectives To identify: diagnostic features of essential tremor/Parkinson's syndrome, different Parkinson's syndrome variants, and long‐term clinical profile in such cases. Methods Patients that had an essential tremor diagnosis and a subsequent clinical or pathological diagnosis of Parkinson's syndrome seen in our clinic during 50 years were included. The diagnosis of parkinsonism was made when bradykinesia, rigidity, and resting tremor were all clinically evident. Results Twenty‐one cases were included. All the common variants of parkinsonism co‐occurred with essential tremor. The most common was PD (67%) followed by PSP. The pathological findings were not predicted clinically in 2 cases that had essential tremor/PD and in all 5 essential tremor/PSP cases. Conclusion In most essential tremor/Parkinson's syndrome patients, the main motor features of parkinsonism—bradykinesia, rigidity, and resting tremor—were identifiable. All known degenerative Parkinson's syndrome variants co‐occurred in essential tremor patients. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

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Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

et al. 2020

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IntroductionThe genetic factors and molecular mechanisms predisposing to essential tremor (ET) remains largely unknown.ObjectiveThe objective of this study was to identify pathways and genes relevant to ET by integrating multiomics approaches.MethodsCase‐control RNA sequencing of 2 cerebellar regions was done for 64 samples. A phenome‐wide association study (pheWAS) of the differentially expressed genes was conducted, and a genome‐wide gene association study (GWGAS) was done to identify pathways overlapping with the transcriptomic data. Finally, a transcriptome‐wide association study (TWAS) was done to identify novel risk genes for ET.ResultsWe identified several novel dysregulated genes, including CACNA1A and SHF. Pathways including axon guidance, olfactory loss, and calcium channel activity were significantly enriched. The ET GWGAS data found calcium ion‐regulated exocytosis of neurotransmitters to be significantly enriched. The TWAS also found calcium and olfactory pathways enriched. The pheWAS identified that the underexpressed differentially expressed gene, SHF, is associated with a blood pressure medication (P = 9.3E‐08), which is used to reduce tremor in ET patients. Treatment of cerebellar DAOY cells with the ET drug propranolol identified increases in SHF when treated, suggesting it may rescue the underexpression.ConclusionWe found that calcium‐related pathways were enriched across the GWGAS, TWAS, and transcriptome. SHF was shown to have significantly decreased expression, and the pheWAS showed it was associated with blood pressure medication. The treatment of cells with propranolol showed that the drug restored levels of SHF. Overall, our findings highlight the power of integrating multiple different approaches to prioritize ET pathways and genes. © 2020 International Parkinson and Movement Disorder Society

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Saskatchewan Movement Disorders Program

Cited by 19 publications

References 55 publications

Parkinson's Disease in the Very Old - Clinicopathological Observations

Parkinson's Disease in the Very Old - Clinicopathological Observations

Parkinsonism in essential tremor cases: A clinicopathological study

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

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