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Article: Myoclonus.

Rivest, Jean

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

2003 Volume 30 Suppl 1, Page(s) S53–8

Abstract: Myoclonus refers to brief muscle jerks caused by neuronal discharges. Etiologies are numerous, ranging from physiological jerks to myoclonus secondary to severe neurodegenerative conditions. The source of myoclonus may be in the cerebral cortex, the ... ...

Abstract	Myoclonus refers to brief muscle jerks caused by neuronal discharges. Etiologies are numerous, ranging from physiological jerks to myoclonus secondary to severe neurodegenerative conditions. The source of myoclonus may be in the cerebral cortex, the brain stem or the spinal cord and multiple generators may be involved in a single patient. The clinical approach to myoclonus relies on both etiological and physiological classifications. Pharmacological therapy is largely based on the presumed site of origin of myoclonus. Polytherapy may be required, particularly in severe cases of cortical myoclonus.
MeSH term(s)	Cholinergic Antagonists/therapeutic use ; Clonazepam/therapeutic use ; GABA Modulators/therapeutic use ; Humans ; Myoclonus/classification ; Myoclonus/physiopathology ; Myoclonus/therapy ; Serotonin Receptor Agonists/therapeutic use
Chemical Substances	Cholinergic Antagonists ; GABA Modulators ; Serotonin Receptor Agonists ; Clonazepam (5PE9FDE8GB)
Language	English
Publishing date	2003-03
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	197622-9
ISSN	0317-1671
ISSN	0317-1671
DOI	10.1017/s0317167100003243
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Article ; Online: Rheumatoid meningitis presenting with stroke-like episodes.

Bourgeois, Pascale / Rivest, Jean / Bocti, Christian

Neurology

2014 Volume 82, Issue 17, Page(s) 1564–1565

Abstract: Neurologic symptoms in patients with rheumatoid arthritis (RA) are most often caused by osseous compression, affecting the cervical spine or peripheral neurologic structures. CNS involvement in RA is infrequent, consisting of CNS vasculitis or meningitis ...

Abstract	Neurologic symptoms in patients with rheumatoid arthritis (RA) are most often caused by osseous compression, affecting the cervical spine or peripheral neurologic structures. CNS involvement in RA is infrequent, consisting of CNS vasculitis or meningitis with or without meningeal nodules.(1) When meningeal infiltration is seen, symptoms of presentation can include focal neurologic deficits, seizure, cranial nerve dysfunction, or altered consciousness.(1) Here we describe a patient with an unusual presentation of rheumatoid meningitis.
MeSH term(s)	Aged ; Arthritis, Rheumatoid/complications ; Arthritis, Rheumatoid/diagnosis ; Brain/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Meningitis/complications ; Meningitis/diagnosis ; Meningitis/etiology ; Stroke/complications ; Stroke/diagnosis
Language	English
Publishing date	2014-03-19
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000000366
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Article ; Online: Versatile and robust genome editing with

Agudelo, Daniel / Carter, Sophie / Velimirovic, Minja / Duringer, Alexis / Rivest, Jean-François / Levesque, Sébastien / Loehr, Jeremy / Mouchiroud, Mathilde / Cyr, Denis / Waters, Paula J / Laplante, Mathieu / Moineau, Sylvain / Goulet, Adeline / Doyon, Yannick

Genome research

2020 Volume 30, Issue 1, Page(s) 107–117

Abstract: Targeting definite genomic locations using CRISPR-Cas systems requires a set of enzymes with unique protospacer adjacent motif (PAM) compatibilities. To expand this repertoire, we engineered nucleases, cytosine base editors, and adenine base editors from ...

Abstract	Targeting definite genomic locations using CRISPR-Cas systems requires a set of enzymes with unique protospacer adjacent motif (PAM) compatibilities. To expand this repertoire, we engineered nucleases, cytosine base editors, and adenine base editors from the archetypal
MeSH term(s)	Animals ; CRISPR-Associated Protein 9/chemistry ; CRISPR-Associated Protein 9/metabolism ; CRISPR-Cas Systems ; Cell Line ; Cells, Cultured ; Clustered Regularly Interspaced Short Palindromic Repeats ; DNA Cleavage ; Gene Editing ; Humans ; Mammals ; Mice ; Mice, Knockout ; Streptococcus thermophilus/enzymology ; Streptococcus thermophilus/genetics ; Structure-Activity Relationship ; Substrate Specificity
Chemical Substances	CRISPR-Associated Protein 9 (EC 3.1.-)
Language	English
Publishing date	2020-01-03
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1284872-4
ISSN	1549-5469 ; 1088-9051 ; 1054-9803
ISSN (online)	1549-5469
ISSN	1088-9051 ; 1054-9803
DOI	10.1101/gr.255414.119
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Article: Contextual considerations in summative competency examinations: relevance to the long case.

Turnbull, John / Turnbull, Jeff / Jacob, Pierre / Brown, John / Duplessis, Michel / Rivest, Jean

Academic medicine : journal of the Association of American Medical Colleges

2005 Volume 80, Issue 12, Page(s) 1133–1137

Abstract: Long-case patient-based examinations previously formed the basis of summative competency testing in physician certification examinations. These exams were found to be unreliable and have fallen from favor. During the authors' deliberation of the long ... ...

Abstract	Long-case patient-based examinations previously formed the basis of summative competency testing in physician certification examinations. These exams were found to be unreliable and have fallen from favor. During the authors' deliberation of the long case in the neurology certification examinations of the Royal College of Physicians and Surgeons of Canada, they considered the examination context and concluded that the appropriate psychometric analysis of the exams is highly contingent on the context. The examination context underlying certification examinations has evolved considerably; within a different context, a more cohesive test system based on a quality assurance framework could better manage substantive psychometric issues around case specificity, comprehensiveness, reliability, and compensability. These arguments are in small part psychometric, but are mostly philosophical and have relevance to the profession and the public.
MeSH term(s)	Certification ; Competency-Based Education ; Humans ; Neurology/education ; Neurology/standards ; Physician's Role ; Psychometrics ; Quality Control ; Reproducibility of Results
Language	English
Publishing date	2005-10-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	96192-9
ISSN	1938-808X ; 1040-2446
ISSN (online)	1938-808X
ISSN	1040-2446
DOI	10.1097/00001888-200512000-00014
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Article: Excessive daytime sleepiness and sudden-onset sleep in Parkinson disease: a survey by the Canadian Movement Disorders Group.

Hobson, Douglas E / Lang, Anthony E / Martin, W R Wayne / Razmy, Ajmal / Rivest, Jean / Fleming, Jonathan

JAMA

2001 Volume 287, Issue 4, Page(s) 455–463

Abstract: Context: Somnolence is a recognized adverse effect of dopamine agonists. Two new dopamine agonists, pramipexole and ropinirole, have been reported to cause sudden-onset sleep spells in patients with Parkinson disease (PD) while they were driving. The ... ...

Abstract	Context: Somnolence is a recognized adverse effect of dopamine agonists. Two new dopamine agonists, pramipexole and ropinirole, have been reported to cause sudden-onset sleep spells in patients with Parkinson disease (PD) while they were driving. The frequency of these spells and whether driving should be restricted has yet to be established. Objective: To determine the frequency of and predictors for sudden-onset sleep and, particularly, episodes of falling asleep while driving among patients with PD. Design, setting, and participants: Prospective survey conducted between January and April 2000 in 18 clinics directed by members of the Canadian Movement Disorders Group; 638 consecutive highly functional PD patients without dementia were enrolled, of whom 420 were currently drivers. Main outcome measures: Excessive daytime sleepiness and sudden-onset sleep as assessed by the Epworth Sleepiness Scale and the Inappropriate Sleep Composite Score. The latter score, designed for this study, addressed falling asleep in unusual circumstances. The 2 scales were combined in 3 separate formats: dozing off, sudden unexpected sleep, and sudden blank spells. Results: Excessive daytime sleepiness was present overall in 327 (51%) of the 638 patients and in 213 (51%) of the 420 drivers. Patients taking a variety of different dopamine agonists had no differences in Epworth sleepiness scores, in the composite score, or in the risk of falling asleep while driving. Sixteen patients (3.8%) had experienced at least 1 episode of sudden onset of sleep while driving (after the diagnosis of PD); in 3 (0.7%), it occurred without warning. The 2 risk factors associated with falling asleep at the wheel were the Epworth Sleepiness Scale score (odds ratio [OR], 1.14; 95% confidence interval [CI], 1.06-1.24) and the Inappropriate Sleep Composite Score (OR, 2.54; 95% CI, 1.76-3.66). A standard Epworth Sleepiness Scale score of 7 or higher predicted 75% of episodes of sleep behind the wheel at a specificity of 50% (exclusion of the question related to driving provided 70% sensitivity and 52% specificity), whereas a score of 1 on the Inappropriate Sleep Composite Score generated a sensitivity of 52% and specificity of 82%. Conclusions: Excessive daytime sleepiness is common even in patients with PD who are independent and do not have dementia. Sudden-onset sleep without warning is infrequent. The Epworth score has adequate sensitivity for predicting prior episodes of falling asleep while driving and its specificity can be increased by use of the Inappropriate Sleep Composite Score. It is unknown if routinely performing these assessments could be more effective in predicting future risk for these rare sleep attacks. Patients should be warned not to drive if they doze in unusual circumstances.
MeSH term(s)	Aged ; Analysis of Variance ; Antiparkinson Agents/adverse effects ; Automobile Driving/statistics & numerical data ; Benzothiazoles ; Disorders of Excessive Somnolence/chemically induced ; Disorders of Excessive Somnolence/complications ; Disorders of Excessive Somnolence/epidemiology ; Dopamine Agonists/adverse effects ; Female ; Humans ; Indoles/adverse effects ; Logistic Models ; Male ; Middle Aged ; Parkinson Disease/complications ; Parkinson Disease/drug therapy ; Pramipexole ; Prospective Studies ; Risk ; Severity of Illness Index ; Thiazoles/adverse effects
Chemical Substances	Antiparkinson Agents ; Benzothiazoles ; Dopamine Agonists ; Indoles ; Thiazoles ; ropinirole (030PYR8953) ; Pramipexole (83619PEU5T)
Language	English
Publishing date	2001-12-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2958-0
ISSN	1538-3598 ; 0098-7484 ; 0254-9077 ; 0002-9955
ISSN (online)	1538-3598
ISSN	0098-7484 ; 0254-9077 ; 0002-9955
DOI	10.1001/jama.287.4.455
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Article ; Online: Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

Badhwar, AmanPreet / Berkovic, Samuel F / Dowling, John P / Gonzales, Michael / Narayanan, Sridar / Brodtmann, Amy / Berzen, Leon / Caviness, John / Trenkwalder, Claudia / Winkelmann, Juliane / Rivest, Jean / Lambert, Marie / Hernandez-Cossio, Otto / Carpenter, Stirling / Andermann, Frederick / Andermann, Eva

Brain : a journal of neurology

2004 Volume 127, Issue Pt 10, Page(s) 2173–2182

Abstract: Action myoclonus-renal failure syndrome (AMRF) is a distinctive form of progressive myoclonus epilepsy associated with renal dysfunction. The syndrome was not recognized prior to the advent of dialysis and renal transplantation because of its rapidly ... ...

Abstract	Action myoclonus-renal failure syndrome (AMRF) is a distinctive form of progressive myoclonus epilepsy associated with renal dysfunction. The syndrome was not recognized prior to the advent of dialysis and renal transplantation because of its rapidly fatal course if renal failure is untreated. The first and only description of AMRF was in four French Canadian patients in three families (Andermann et al., 1986). We now describe 15 individuals with AMRF from five countries, including a follow-up of the four French Canadian patients, allowing a more complete characterization of this disease. Our 15 patients with AMRF belong to nine different families. Segregation analyses were compatible with autosomal recessive inheritance. In addition, our findings show that AMRF can present with either renal or neurological features. Tremor (onset 17-26 years, mean 19.8 years, median 19 years) and progressively disabling action myoclonus (onset 14-29 years, mean 21.7 years, median 21 years), with infrequent generalized seizures (onset 20-28 years, mean 22.7 years, median 22 years) and cerebellar features are characteristic. Proteinuria, detected between ages 9 and 30 years in all cases, progressed to renal failure in 12 out of 15 patients within 0-8 years after proteinuria detection. Brain autopsy in two patients revealed extraneuronal pigment accumulation. Renal biopsies showed collapsing glomerulopathy, a severe variant of focal glomerulosclerosis. This study extends the AMRF phenotype, and demonstrates a more extensive ethnic and geographic distribution of a syndrome originally believed to be confined to individuals of French Canadian ancestry. The independent progression of neurological and renal disorders in AMRF suggests a unitary molecular lesion with pleiotropic effects. Our results demonstrate that the renal lesion in AMRF is a recessive form of collapsing glomerulopathy. Genes identified for focal segmental glomerulosclerosis and involved with the function of the glomerular basement membrane and related proteins are thus good candidates. Treatment can improve quality of life and extend the lifespan of these patients. Dialysis and renal transplantation are effective for the renal but not the neurological features, which continue to progress even in the presence of normalized renal function; the latter can be managed with anti-myoclonic and anti-epileptic drugs.
MeSH term(s)	Adolescent ; Adult ; Ataxia/physiopathology ; Dysarthria/physiopathology ; Family Health ; Female ; Humans ; Intelligence ; Kidney/pathology ; Kidney/physiopathology ; Male ; Myoclonic Epilepsies, Progressive/genetics ; Myoclonic Epilepsies, Progressive/pathology ; Myoclonic Epilepsies, Progressive/physiopathology ; Myoclonus/physiopathology ; Pedigree ; Peripheral Nervous System Diseases/physiopathology ; Proteinuria/etiology ; Seizures/physiopathology ; Tremor/physiopathology
Language	English
Publishing date	2004-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awh263
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Article ; Online: A randomized clinical trial of high-dosage coenzyme Q10 in early Parkinson disease: no evidence of benefit.

Beal, M Flint / Oakes, David / Shoulson, Ira / Henchcliffe, Claire / Galpern, Wendy R / Haas, Richard / Juncos, Jorge L / Nutt, John G / Voss, Tiffini Smith / Ravina, Bernard / Shults, Clifford M / Helles, Karen / Snively, Victoria / Lew, Mark F / Griebner, Brian / Watts, Arthur / Gao, Shan / Pourcher, Emmanuelle / Bond, Louisette /

Kompoliti, Katie / Agarwal, Pinky / Sia, Cherissa / Jog, Mandar / Cole, Linda / Sultana, Munira / Kurlan, Roger / Richard, Irene / Deeley, Cheryl / Waters, Cheryl H / Figueroa, Angel / Arkun, Ani / Brodsky, Matthew / Ondo, William G / Hunter, Christine B / Jimenez-Shahed, Joohi / Palao, Alicia / Miyasaki, Janis M / So, Julie / Tetrud, James / Reys, Liza / Smith, Katharine / Singer, Carlos / Blenke, Anita / Russell, David S / Cotto, Candace / Friedman, Joseph H / Lannon, Margaret / Zhang, Lin / Drasby, Edward / Kumar, Rajeev / Subramanian, Thyagarajan / Ford, Donna Stuppy / Grimes, David A / Cote, Diane / Conway, Jennifer / Siderowf, Andrew D / Evatt, Marian Leslie / Sommerfeld, Barbara / Lieberman, Abraham N / Okun, Michael S / Rodriguez, Ramon L / Merritt, Stacy / Swartz, Camille Louise / Martin, W R Wayne / King, Pamela / Stover, Natividad / Guthrie, Stephanie / Watts, Ray L / Ahmed, Anwar / Fernandez, Hubert H / Winters, Adrienna / Mari, Zoltan / Dawson, Ted M / Dunlop, Becky / Feigin, Andrew S / Shannon, Barbara / Nirenberg, Melissa Jill / Ogg, Mattson / Ellias, Samuel A / Thomas, Cathi-Ann / Frei, Karen / Bodis-Wollner, Ivan / Glazman, Sofya / Mayer, Thomas / Hauser, Robert A / Pahwa, Rajesh / Langhammer, April / Ranawaya, Ranjit / Derwent, Lorelei / Sethi, Kapil D / Farrow, Buff / Prakash, Rajan / Litvan, Irene / Robinson, Annette / Sahay, Alok / Gartner, Maureen / Hinson, Vanessa K / Markind, Samuel / Pelikan, Melisa / Perlmutter, Joel S / Hartlein, Johanna / Molho, Eric / Evans, Sharon / Adler, Charles H / Duffy, Amy / Lind, Marlene / Elmer, Lawrence / Davis, Kathy / Spears, Julia / Wilson, Stephanie / Leehey, Maureen A / Hermanowicz, Neal / Niswonger, Shari / Shill, Holly A / Obradov, Sanja / Rajput, Alex / Cowper, Marilyn / Lessig, Stephanie / Song, David / Fontaine, Deborah / Zadikoff, Cindy / Williams, Karen / Blindauer, Karen A / Bergholte, Jo / Propsom, Clara Schindler / Stacy, Mark A / Field, Joanne / Mihaila, Dragos / Chilton, Mark / Uc, Ergun Y / Sieren, Jeri / Simon, David K / Kraics, Lauren / Silver, Althea / Boyd, James T / Hamill, Robert W / Ingvoldstad, Christopher / Young, Jennifer / Thomas, Karen / Kostyk, Sandra K / Wojcieszek, Joanne / Pfeiffer, Ronald F / Panisset, Michel / Beland, Monica / Reich, Stephen G / Cines, Michelle / Zappala, Nancy / Rivest, Jean / Zweig, Richard / Lumina, L Pepper / Hilliard, Colette Lynn / Grill, Stephen / Kellermann, Marye / Tuite, Paul / Rolandelli, Susan / Kang, Un Jung / Young, Joan / Rao, Jayaraman / Cook, Maureen M / Severt, Lawrence / Boyar, Karyn

JAMA neurology

2014 Volume 71, Issue 5, Page(s) 543–552

Abstract: Importance: Coenzyme Q10 (CoQ10), an antioxidant that supports mitochondrial function, has been shown in preclinical Parkinson disease (PD) models to reduce the loss of dopamine neurons, and was safe and well tolerated in early-phase human studies. A ... ...

Abstract	Importance: Coenzyme Q10 (CoQ10), an antioxidant that supports mitochondrial function, has been shown in preclinical Parkinson disease (PD) models to reduce the loss of dopamine neurons, and was safe and well tolerated in early-phase human studies. A previous phase II study suggested possible clinical benefit. Objective: To examine whether CoQ10 could slow disease progression in early PD. Design, setting, and participants: A phase III randomized, placebo-controlled, double-blind clinical trial at 67 North American sites consisting of participants 30 years of age or older who received a diagnosis of PD within 5 years and who had the following inclusion criteria: the presence of a rest tremor, bradykinesia, and rigidity; a modified Hoehn and Yahr stage of 2.5 or less; and no anticipated need for dopaminergic therapy within 3 months. Exclusion criteria included the use of any PD medication within 60 days, the use of any symptomatic PD medication for more than 90 days, atypical or drug-induced parkinsonism, a Unified Parkinson's Disease Rating Scale (UPDRS) rest tremor score of 3 or greater for any limb, a Mini-Mental State Examination score of 25 or less, a history of stroke, the use of certain supplements, and substantial recent exposure to CoQ10. Of 696 participants screened, 78 were found to be ineligible, and 18 declined participation. Interventions: The remaining 600 participants were randomly assigned to receive placebo, 1200 mg/d of CoQ10, or 2400 mg/d of CoQ10; all participants received 1200 IU/d of vitamin E. Main outcomes and measures: Participants were observed for 16 months or until a disability requiring dopaminergic treatment. The prospectively defined primary outcome measure was the change in total UPDRS score (Parts I-III) from baseline to final visit. The study was powered to detect a 3-point difference between an active treatment and placebo. Results: The baseline characteristics of the participants were well balanced, the mean age was 62.5 years, 66% of participants were male, and the mean baseline total UPDRS score was 22.7. A total of 267 participants required treatment (94 received placebo, 87 received 1200 mg/d of CoQ10, and 86 received 2400 mg/d of CoQ10), and 65 participants (29 who received placebo, 19 who received 1200 mg/d of CoQ10, and 17 who received 2400 mg/d of CoQ10) withdrew prematurely. Treatments were well tolerated with no safety concerns. The study was terminated after a prespecified futility criterion was reached. At study termination, both active treatment groups showed slight adverse trends relative to placebo. Adjusted mean changes (worsening) in total UPDRS scores from baseline to final visit were 6.9 points (placebo), 7.5 points (1200 mg/d of CoQ10; P = .49 relative to placebo), and 8.0 points (2400 mg/d of CoQ10; P = .21 relative to placebo). Conclusions and relevance: Coenzyme Q10 was safe and well tolerated in this population, but showed no evidence of clinical benefit. Trial registration: clinicaltrials.gov Identifier: NCT00740714.
MeSH term(s)	Aged ; Antioxidants/administration & dosage ; Antioxidants/metabolism ; Dose-Response Relationship, Drug ; Double-Blind Method ; Early Diagnosis ; Female ; Humans ; Male ; Middle Aged ; Parkinson Disease/diagnosis ; Parkinson Disease/drug therapy ; Parkinson Disease/enzymology ; Prospective Studies ; Treatment Outcome ; Ubiquinone/administration & dosage ; Ubiquinone/analogs & derivatives ; Ubiquinone/blood
Chemical Substances	Antioxidants ; Ubiquinone (1339-63-5) ; coenzyme Q10 (EJ27X76M46)
Language	English
Publishing date	2014-03-24
Publishing country	United States
Document type	Clinical Trial, Phase III ; Journal Article ; Multicenter Study ; Randomized Controlled Trial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2702023-X
ISSN	2168-6157 ; 2168-6149
ISSN (online)	2168-6157
ISSN	2168-6149
DOI	10.1001/jamaneurol.2014.131
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Article: Myoclonus.

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Article ; Online: Rheumatoid meningitis presenting with stroke-like episodes.

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Article: Contextual considerations in summative competency examinations: relevance to the long case.

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Article: Excessive daytime sleepiness and sudden-onset sleep in Parkinson disease: a survey by the Canadian Movement Disorders Group.

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Article ; Online: Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

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Article ; Online: A randomized clinical trial of high-dosage coenzyme Q10 in early Parkinson disease: no evidence of benefit.

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