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Article: A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation.

Besa Lehmann, Valentina / Rosenbaum, Marc / Bulman, Dennis E / Read, Tara / Verhagen Metman, Leo

Neurology and therapy

2020 Volume 9, Issue 1, Page(s) 187–191

Abstract: Introduction: Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause. In the last few years, deep brain ... ...

Abstract	Introduction: Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause. In the last few years, deep brain stimulation (DBS) has shown significant promise in treating these patients. There is only one report in the literature of a patient with positive SGCE mutation and isolated myoclonus phenotype who has been successfully treated with DBS. Case presentation: We present a case of a 16-year-old young man with a history of quick jerks since childhood. They progressed gradually over the years involving the entire body and interfering with most of his daily activities. He had no dystonia. Genetic testing identified a single base deletion in exon 3 of the SGCE gene, considered very likely pathogenic. After unsuccessfully trying several oral medications, he underwent DBS of the globus pallidus internus (GPi). His Unified Myoclonus Rating Scale score during rest and with action improved by 92.8% and 82.6%, respectively. Discussion: The striking effect of DBS on myoclonic jerks confirms the superior benefit of DBS over oral medications. Further study is needed to determine the role of mutation status in predicting DBS response, especially considering that myoclonus-dystonia is genetically heterogeneous. Conclusion: Our case confirms the poor response to oral medications and supports the use of GPi DBS for patients with genetically confirmed myoclonus-dystonia and isolated-myoclonus phenotype. In addition, our case represents familial myoclonus-dystonia due to a novel SGCE mutation.
Language	English
Publishing date	2020-04-09
Publishing country	New Zealand
Document type	Journal Article
ISSN	2193-8253
ISSN	2193-8253
DOI	10.1007/s40120-020-00186-4
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Article ; Online: Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

Niri, Farshad / Nicholls, Jessie / Baptista Wyatt, Kelly / Walker, Christine / Price, Tiffany / Kelln, Rhonda / Hume, Stacey / Parboosingh, Jillian / Lilley, Margaret / Kolski, Hanna / Ridsdale, Ross / Muranyi, Andrew / Mah, Jean K / Bulman, Dennis E

International journal of neonatal screening

2023 Volume 9, Issue 3

Abstract: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of ... ...

Abstract	Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the
Language	English
Publishing date	2023-07-27
Publishing country	Switzerland
Document type	Journal Article
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns9030042
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Article ; Online: Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.

Blagojevic, Christina / Heung, Tracy / Theriault, Mylene / Tomita-Mitchell, Aoy / Chakraborty, Pranesh / Kernohan, Kristin / Bulman, Dennis E / Bassett, Anne S

CMAJ open

2021 Volume 9, Issue 3, Page(s) E802–E809

Abstract: Background: Although pathogenic 22q11.2 deletions are an important cause of developmental delays and lifelong disease burden, their variable and complex clinical expression contributes to under-recognition, delayed molecular diagnosis and uncertainty ... ...

Abstract	Background: Although pathogenic 22q11.2 deletions are an important cause of developmental delays and lifelong disease burden, their variable and complex clinical expression contributes to under-recognition, delayed molecular diagnosis and uncertainty about prevalence. We sought to estimate the contemporary live-birth prevalence of typical 22q11.2 deletions using a population-based newborn screening sample and to examine data available for associated clinical features. Methods: Using DNA available from an unbiased sample of about 12% of all dried blood spots collected for newborn screening in Ontario between January 2017 and September 2018, we prospectively screened for 22q11.2 deletions using multiplex quantitative polymerase chain reaction assays and conducted independent confirmatory studies. We used cross-sectional analyses to compare available clinical and T-cell receptor excision circle (TREC, used in newborn screening for severe combined immunodeficiency) data between samples with and without 22q11.2 deletions. Results: The estimated minimum prevalence of 22q11.2 deletions was 1 in 2148 (4.7 per 10 000) live births (95% confidence interval [CI] 2.5 to 7.8 per 10 000), based on a total of 30 074 samples screened, with 14 having confirmed 22q11.2 deletions. Of term singletons, samples with 22q11.2 deletions had significantly younger median maternal age (25.5 v. 32.0 yr, difference -6.5 yr, 95% CI -7 to -2 yr), a greater proportion with small birth weight for gestational age (odds ratio 7.00, 95% CI 2.36 to 23.18) and lower median TREC levels (108.9 v. 602.5 copies/3 μL, Interpretation: These results indicate that the 22q11.2 deletion syndrome is one of the most common of rare genetic conditions and may be associated with relatively younger maternal ages and with prenatal growth abnormalities. The findings support the public health importance of early - prenatal and neonatal - diagnosis that would enable prompt screening for and management of well-known actionable features associated with 22q11.2 deletions.
MeSH term(s)	Cross-Sectional Studies ; Developmental Disabilities/diagnosis ; Developmental Disabilities/epidemiology ; Developmental Disabilities/etiology ; DiGeorge Syndrome/diagnosis ; DiGeorge Syndrome/epidemiology ; DiGeorge Syndrome/genetics ; Early Medical Intervention ; Female ; Gestational Age ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Live Birth/epidemiology ; Male ; Maternal Age ; Molecular Diagnostic Techniques/methods ; Molecular Diagnostic Techniques/statistics & numerical data ; Neonatal Screening/methods ; Ontario/epidemiology ; Prenatal Diagnosis/methods ; Prevalence ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/epidemiology ; Severe Combined Immunodeficiency/genetics
Language	English
Publishing date	2021-08-17
Publishing country	Canada
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2701622-5
ISSN	2291-0026 ; 2291-0026
ISSN (online)	2291-0026
ISSN	2291-0026
DOI	10.9778/cmajo.20200294
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Article ; Online: Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Heighton, Julia N / Brady, Lauren I / Sadikovic, Bekim / Bulman, Dennis E / Tarnopolsky, Mark A

Mitochondrion

2019 Volume 49, Page(s) 227–231

Abstract: Chronic progressive external ophthalmoplegia (CPEO) is a common presentation of mitochondrial disease. We performed a retrospective evaluation of the molecular genetic testing and genotype-phenotype correlations in a large cohort of adult-onset CPEO ... ...

Abstract	Chronic progressive external ophthalmoplegia (CPEO) is a common presentation of mitochondrial disease. We performed a retrospective evaluation of the molecular genetic testing and genotype-phenotype correlations in a large cohort of adult-onset CPEO patients (N = 111). One hundred percent of patients tested had at least one mitochondrial DNA (mtDNA) deletion. Genetic testing of nuclear genes encoding mitochondrial proteins identified pathogenic/likely pathogenic variants likely to be associated with CPEO in 7.6% of patients. As expected, the nuclear gene most associated with DNA variation was POLG. A single likely pathogenic mitochondrial DNA variant (m.12278T>C) was identified in two unrelated patients. No significant differences were noted in the clinical phenotypes of patients with pathogenic or likely pathogenic nuclear variants in comparison to those with negative nuclear gene testing. Analysis of deletion size and heteroplasmy in muscle-derived mtDNA showed significant correlations with age of symptom onset but not disease severity (number of canonical CPEO features). Results suggest that smaller mtDNA deletions (p = 0.0127, r
MeSH term(s)	Adult ; Age of Onset ; Base Sequence ; Chronic Disease ; DNA Polymerase gamma/genetics ; DNA, Mitochondrial/genetics ; Female ; Genetic Variation ; Genotype ; Humans ; Male ; Middle Aged ; Ophthalmoplegia/genetics ; Point Mutation ; Sequence Deletion
Chemical Substances	DNA, Mitochondrial ; DNA Polymerase gamma (EC 2.7.7.7) ; POLG protein, human (EC 2.7.7.7)
Language	English
Publishing date	2019-09-12
Publishing country	Netherlands
Document type	Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2056923-3
ISSN	1872-8278 ; 1567-7249
ISSN (online)	1872-8278
ISSN	1567-7249
DOI	10.1016/j.mito.2019.09.002
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Article ; Online: Time-dependent decline of T-cell receptor excision circle levels in ZAP-70 deficiency.

Suresh, Sneha / Dadi, Harjit / Reid, Brenda / Vong, Linda / Bulman, Dennis E / Roifman, Chaim M

The journal of allergy and clinical immunology. In practice

2019 Volume 8, Issue 2, Page(s) 806–808.e2

MeSH term(s)	Humans ; Receptors, Antigen, T-Cell/genetics ; ZAP-70 Protein-Tyrosine Kinase/deficiency ; ZAP-70 Protein-Tyrosine Kinase/genetics
Chemical Substances	Receptors, Antigen, T-Cell ; ZAP-70 Protein-Tyrosine Kinase (EC 2.7.10.2)
Language	English
Publishing date	2019-08-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2843237-X
ISSN	2213-2201 ; 2213-2198
ISSN (online)	2213-2201
ISSN	2213-2198
DOI	10.1016/j.jaip.2019.08.018
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Article ; Online: Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Huang, Lijia / Warman-Chardon, Jodi / Carter, Melissa T / Friend, Kathie L / Dudding, Tracy E / Schwartzentruber, Jeremy / Zou, Ruobing / Schofield, Peter W / Douglas, Stuart / Bulman, Dennis E / Boycott, Kym M

Orphanet journal of rare diseases

2022 Volume 17, Issue 1, Page(s) 143

Language	English
Publishing date	2022-03-29
Publishing country	England
Document type	Published Erratum
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-022-02297-7
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Article ; Online: Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

Mandola, Amarilla B / Reid, Brenda / Sirror, Raga / Brager, Rae / Dent, Peter / Chakroborty, Pranesh / Bulman, Dennis E / Roifman, Chaim M

Frontiers in immunology

2019 Volume 10, Page(s) 2940

Abstract: Ataxia telangiectasia (AT) is a genetic condition caused by mutations ... ...

Abstract	Ataxia telangiectasia (AT) is a genetic condition caused by mutations involving
MeSH term(s)	Ataxia Telangiectasia/diagnosis ; Ataxia Telangiectasia/genetics ; Ataxia Telangiectasia/immunology ; Ataxia Telangiectasia/therapy ; Ataxia Telangiectasia Mutated Proteins/genetics ; Ataxia Telangiectasia Mutated Proteins/immunology ; B-Lymphocytes/immunology ; B-Lymphocytes/pathology ; Case-Control Studies ; Humans ; Immunoglobulins, Intravenous/administration & dosage ; Infant ; Infant, Newborn ; Male ; Mutation ; Neonatal Screening ; Ontario ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/immunology ; Severe Combined Immunodeficiency/therapy ; T-Lymphocytes/immunology ; T-Lymphocytes/pathology ; Vaccination ; Whole Genome Sequencing
Chemical Substances	Immunoglobulins, Intravenous ; ATM protein, human (EC 2.7.11.1) ; Ataxia Telangiectasia Mutated Proteins (EC 2.7.11.1)
Language	English
Publishing date	2019-12-20
Publishing country	Switzerland
Document type	Case Reports ; Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2019.02940
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Article ; Online: An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Chen, Andrew T / Brady, Lauren / Bulman, Dennis E / Sundaram, Arun N E / Rodriguez, Amadeo R / Margolin, Edward / Waye, John S / Tarnopolsky, Mark A

PloS one

2019 Volume 14, Issue 11, Page(s) e0225656

Abstract: Purpose: To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA).: Design: Retrospective cohort study.: Methods: 97 patients were referred to the McMaster University Medical Center ( ... ...

Abstract	Purpose: To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA). Design: Retrospective cohort study. Methods: 97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA. All patients were sent for NGS including a 22 nuclear gene panel and/or complete mitochondrial DNA (mtDNA) sequencing. Positive genetic test results and abnormal vibration sensation were compared in patients +/- environmental exposures or a family history. Results: 19/94 (20.2%) had a positive nuclear variant, of which 15/19 (78.9%) were in the OPA1 gene. No positive mtDNA variants were identified. The detection of a positive genetic variant was significantly different in patients who reported excessive ethanol use, but not in patients who smoke (0/19 (0%) vs. 19/78 (24.4%), P = 0.0164 and 4/22 (18.2%) vs. 15/74 (20.3%), P = 0.829, respectively). Patients with a positive family history were more likely to have a positive genetic variant compared to patients with a negative family history (P = 0.0112). There were significantly more excessive drinkers with an abnormal vibration sensation (P = 0.026), and with a similar trend in smokers (P = 0.074). Conclusions: All positive genetic variants were identified in nuclear genes. We identified a potential independent pathophysiological link between a history of excessive ethanol consumption and bilateral OA. Further investigations should evaluate and identify potential environmental risk factors for OA.
MeSH term(s)	Aconitate Hydratase/genetics ; Alcohol Drinking ; DNA, Mitochondrial/chemistry ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Environmental Exposure ; GTP Phosphohydrolases/genetics ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Humans ; Membrane Proteins/genetics ; Optic Atrophy/genetics ; Optic Atrophy/pathology ; Retrospective Studies ; Risk Factors ; Sequence Analysis, DNA ; Smoking
Chemical Substances	DNA, Mitochondrial ; Membrane Proteins ; wolframin protein ; GTP Phosphohydrolases (EC 3.6.1.-) ; OPA1 protein, human (EC 3.6.1.-) ; ACO2 protein, human (EC 4.2.1.3) ; Aconitate Hydratase (EC 4.2.1.3)
Language	English
Publishing date	2019-11-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0225656
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Article ; Online: Retrospective testing of respiratory specimens for COVID-19 to assess for earlier SARS-CoV-2 infections in Alberta, Canada.

Kanji, Jamil N / Diggle, Mathew / Bulman, Dennis E / Hume, Stacey / Taylor, Sherry / Kelln, Rhonda / Haase, Shelagh / Tomaszewski, Robert / Walker, Christine / Pabbaraju, Kanti / Li, Vincent / Croxen, Matthew / Zelyas, Nathan / Hinshaw, Deena / Tipples, Graham

Journal of the Association of Medical Microbiology and Infectious Disease Canada = Journal officiel de l'Association pour la microbiologie medicale et l'infectiologie Canada

2021 Volume 6, Issue 1, Page(s) 10–15

Abstract: Background: The first case of coronavirus disease 2019 (COVID-19) in Alberta, Canada, was confirmed on March 5, 2020. Because the virus testing criteria had changed significantly over this time period, we wanted to ascertain whether previous cases of ... ...

Abstract	Background: The first case of coronavirus disease 2019 (COVID-19) in Alberta, Canada, was confirmed on March 5, 2020. Because the virus testing criteria had changed significantly over this time period, we wanted to ascertain whether previous cases of COVID-19 had been missed in the province. Methods: Our aim was to retrospectively evaluate specimens submitted for respiratory virus testing from December 1, 2019, through March 7, 2020, for undetected severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections before the first confirmed case. Results: Testing of 23,517 samples (representing 23,394 patients) identified 1 patient positive for SARS-CoV-2. This specimen was collected on February 24, 2020, from a patient with symptoms consistent with COVID-19 who had recently returned from the western United States. Phylogenetic analysis confirmed this viral isolate belonged to lineage B.1. The epidemiology of this case is consistent with those of other early cases before sustained community transmission, which included a travel history outside of Canada. Conclusion: This exercise provides support that local public health pandemic planning was satisfactory and timely.
Language	English
Publishing date	2021-05-03
Publishing country	Canada
Document type	Journal Article
ISSN	2371-0888
ISSN (online)	2371-0888
DOI	10.3138/jammi-2020-0035
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Article ; Online: The PARLance of Parkinson disease.

McQuibban, G Angus / Bulman, Dennis E

Autophagy

2011 Volume 7, Issue 7, Page(s) 790–792

Abstract: Mitochondrial biology has recently emerged as a key regulatory event in Parkinson disease (PD). Notably, defects in the clearance of damaged mitochondria, termed mitophagy, have been recently highlighted as a possible mechanistic explanation for neuronal ...

Abstract	Mitochondrial biology has recently emerged as a key regulatory event in Parkinson disease (PD). Notably, defects in the clearance of damaged mitochondria, termed mitophagy, have been recently highlighted as a possible mechanistic explanation for neuronal loss. We have recently identified the mitochondrial rhomboid, termed PARL, as a regulator of the cells mitophagic response. Further, we have identified PD-linked mutations at a functional site in the PARL gene. Here we discuss the benefit of combining molecular genetic and cell biology approaches in understanding human disease.
MeSH term(s)	Autophagy ; Humans ; Mitochondria/metabolism ; Mitochondrial Proteins/metabolism ; Models, Biological ; Parkinson Disease/enzymology ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Parkinson Disease/pathology ; Protein Kinases/metabolism
Chemical Substances	Mitochondrial Proteins ; Protein Kinases (EC 2.7.-) ; PTEN-induced putative kinase (EC 2.7.11.1)
Language	English
Publishing date	2011-07-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2454135-7
ISSN	1554-8635 ; 1554-8627
ISSN (online)	1554-8635
ISSN	1554-8627
DOI	10.4161/auto.7.7.15614
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