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Article ; Online: PYROXD1

D'Costa, Matthew Selwyn / Bugiardini, Enrico / Merve, Ashirwad / Morrow, Jasper M

BMJ case reports

2024 Volume 17, Issue 3

Abstract: ... ...

Abstract	PYROXD1
MeSH term(s)	Male ; Humans ; Muscular Diseases/pathology ; Muscular Dystrophies, Limb-Girdle ; Muscles ; Mutation
Language	English
Publishing date	2024-03-29
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2024-259907
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Article ; Online: Anti-HMGCR myopathy: barriers to prompt recognition.

Barp, Andrea / Merve, Ashirwad / Shah, Sachit / Desikan, Mahalekshmi / Hanna, Michael G / Bugiardini, Enrico

Practical neurology

2022 Volume 23, Issue 3, Page(s) 239–242

Abstract: Anti-HMGCR (3-hydroxy-3-methylglutaryl coenzyme A reductase) myopathy is an immune-mediated necrotising myopathy. Atypical presentations hinder its recognition and its prompt treatment. We present two patients with atypical clinical or pathological ... ...

Abstract	Anti-HMGCR (3-hydroxy-3-methylglutaryl coenzyme A reductase) myopathy is an immune-mediated necrotising myopathy. Atypical presentations hinder its recognition and its prompt treatment. We present two patients with atypical clinical or pathological features. A 45-year-old woman had an asymptomatic serum creatine kinase (CK) of ~10 000 IU/L and muscle biopsy showing minimal changes. She then developed slowly progressive proximal weakness, diagnosed as limb-girdle muscular dystrophy but with negative genetics. Twelve years later, now with severe proximal weakness, her MR scan of muscle showed diffuse asymmetrical fatty degeneration, with conspicuous hyperintense STIR signal abnormalities. HMGCR antibodies were positive and she partially improved with immunosuppression. The second patient developed slowly progressive proximal limb weakness with a high serum CK (~4000 IU/L); muscle biopsy showed a lymphocyte infiltrate with angiocentric distribution suggesting vasculitis. Serum HMGCR antibodies were positive. Anti-HMGCR myopathy can present as a slowly progressive myopathy with atypical pathology. HMGCR antibody screening is indicated for people with suspected limb-girdle muscular dystrophy or atypical inflammatory muscle conditions.
MeSH term(s)	Female ; Humans ; Middle Aged ; Autoantibodies ; Muscular Diseases/diagnosis ; Muscular Diseases/pathology ; Myositis/diagnosis ; Myositis/drug therapy ; Autoimmune Diseases ; Muscular Dystrophies, Limb-Girdle
Chemical Substances	Autoantibodies
Language	English
Publishing date	2022-12-23
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2170881-2
ISSN	1474-7766 ; 1474-7758
ISSN (online)	1474-7766
ISSN	1474-7758
DOI	10.1136/pn-2022-003589
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Article: Mitochondrial Strokes: Diagnostic Challenges and Chameleons

Pizzamiglio, Chiara / Bugiardini, Enrico / Macken, William L. / Woodward, Cathy E. / Hanna, Michael G. / Pitceathly, Robert D. S.

Genes. 2021 Oct. 19, v. 12, no. 10

2021

Abstract: Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and ... ...

Abstract	Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and are usually driven by seizures. Suggestive features of an underlying mitochondrial pathology include evolving MRI lesions, often originating within the posterior brain regions, the presence of multisystemic involvement, including diabetes, deafness, or cardiomyopathy, and a positive family history. The diagnosis of MELAS has important implications for those affected and their relatives, given it enables early initiation of appropriate treatment and genetic counselling. However, the diagnosis is frequently challenging, particularly during the acute phase of an event. We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.
Keywords	acidosis ; brain ; cardiomyopathy ; deafness ; diabetes ; encephalitis ; mitochondria ; stroke ; vasculitis
Language	English
Dates of publication	2021-1019
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12101643
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Article ; Online: Wernicke's encephalopathy, refeeding syndrome and wet beriberi after laparoscopic sleeve gastrectomy: the importance of thiamine evaluation.

Pacei, Federico / Iaccarino, Laura / Bugiardini, Enrico / Dadone, Viola / De Toni Franceschini, Luisa / Colombo, Chiara

European journal of clinical nutrition

2020 Volume 74, Issue 4, Page(s) 659–662

Abstract: We described the case of a young man with morbid obesity who underwent bariatric surgery who experiences different complications. After the discharge the patient starts to complain about nausea, dizziness, and visual impairment. After a first access to ... ...

Abstract	We described the case of a young man with morbid obesity who underwent bariatric surgery who experiences different complications. After the discharge the patient starts to complain about nausea, dizziness, and visual impairment. After a first access to an emergency department, with a diagnosis of labyrinthopathy, the patient gets worse. He then has been hospitalized and a wernicke's encephalopathy was diagnosed. During the hospitalization other comploication of low thiamine appeared such as wet beriberi. The clinical picture was also complicated with the refeeding syndrome. Wernicke's encephalopathy, wet beriberi, and refeeding syndrome are life-threatening conditions that can be prevented and treated. Both physicians and patients must be warned about these potential risks in order to put in act a prompt treatment.
MeSH term(s)	Beriberi/diagnosis ; Beriberi/drug therapy ; Beriberi/etiology ; Gastrectomy/adverse effects ; Humans ; Laparoscopy ; Male ; Refeeding Syndrome ; Thiamine ; Thiamine Deficiency/diagnosis ; Thiamine Deficiency/drug therapy ; Thiamine Deficiency/etiology ; Wernicke Encephalopathy/diagnosis ; Wernicke Encephalopathy/drug therapy ; Wernicke Encephalopathy/etiology
Chemical Substances	Thiamine (X66NSO3N35)
Language	English
Publishing date	2020-02-11
Publishing country	England
Document type	Journal Article
ZDB-ID	639358-5
ISSN	1476-5640 ; 0954-3007
ISSN (online)	1476-5640
ISSN	0954-3007
DOI	10.1038/s41430-020-0583-x
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Article ; Online: A Novel Variant in

Robaszkiewicz, Katarzyna / Siatkowska, Małgorzata / Wadman, Renske I / Kamsteeg, Erik-Jan / Chen, Zhiyong / Merve, Ashirwad / Parton, Matthew / Bugiardini, Enrico / de Bie, Charlotte / Moraczewska, Joanna

International journal of molecular sciences

2023 Volume 24, Issue 22

Abstract: A novel variant of unknown significance c.8A > G (p.Glu3Gly) ... ...

Abstract	A novel variant of unknown significance c.8A > G (p.Glu3Gly) in
MeSH term(s)	Humans ; Child, Preschool ; Actins/genetics ; Tropomyosin/genetics ; Tropomyosin/chemistry ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Myopathies, Nemaline/genetics ; Mutation ; Myosins/genetics ; Contracture/pathology ; Phenotype ; Troponin/genetics ; Muscle, Skeletal/pathology
Chemical Substances	Actins ; Tropomyosin ; Myosins (EC 3.6.4.1) ; Troponin ; TPM3 protein, human
Language	English
Publishing date	2023-11-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms242216147
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Article ; Online: Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.

Macken, William L / Falabella, Micol / Pizzamiglio, Chiara / Woodward, Cathy E / Scotchman, Elizabeth / Chitty, Lyn S / Polke, James M / Bugiardini, Enrico / Hanna, Michael G / Vandrovcova, Jana / Chandler, Natalie / Labrum, Robyn / Pitceathly, Robert D S

Expert review of molecular diagnostics

2023 Volume 23, Issue 9, Page(s) 797–814

Abstract: Introduction: Primary mitochondrial diseases (PMDs) comprise a large and heterogeneous group of genetic diseases that result from pathogenic variants in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Widespread adoption of next-generation ... ...

Abstract	Introduction: Primary mitochondrial diseases (PMDs) comprise a large and heterogeneous group of genetic diseases that result from pathogenic variants in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Widespread adoption of next-generation sequencing (NGS) has improved the efficiency and accuracy of mtDNA diagnoses; however, several challenges remain. Areas covered: In this review, we briefly summarize the current state of the art in molecular diagnostics for mtDNA and consider the implications of improved whole genome sequencing (WGS), bioinformatic techniques, and the adoption of long-read sequencing, for PMD diagnostics. Expert opinion: We anticipate that the application of PCR-free WGS from blood DNA will increase in diagnostic laboratories, while for adults with myopathic presentations, WGS from muscle DNA may become more widespread. Improved bioinformatic strategies will enhance WGS data interrogation, with more accurate delineation of mtDNA and NUMTs (nuclear mitochondrial DNA segments) in WGS data, superior coverage uniformity, indirect measurement of mtDNA copy number, and more accurate interpretation of heteroplasmic large-scale rearrangements (LSRs). Separately, the adoption of diagnostic long-read sequencing could offer greater resolution of complex LSRs and the opportunity to phase heteroplasmic variants.
MeSH term(s)	Humans ; Genome, Mitochondrial ; DNA, Mitochondrial/genetics ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Sequence Analysis, DNA/methods ; Computational Biology ; High-Throughput Nucleotide Sequencing/methods
Chemical Substances	DNA, Mitochondrial
Language	English
Publishing date	2023-08-29
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2112530-2
ISSN	1744-8352 ; 1473-7159
ISSN (online)	1744-8352
ISSN	1473-7159
DOI	10.1080/14737159.2023.2241365
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Article ; Online: Mitochondrial Strokes: Diagnostic Challenges and Chameleons.

Pizzamiglio, Chiara / Bugiardini, Enrico / Macken, William L / Woodward, Cathy E / Hanna, Michael G / Pitceathly, Robert D S

Genes

2021 Volume 12, Issue 10

Abstract	Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and are usually driven by seizures. Suggestive features of an underlying mitochondrial pathology include evolving MRI lesions, often originating within the posterior brain regions, the presence of multisystemic involvement, including diabetes, deafness, or cardiomyopathy, and a positive family history. The diagnosis of MELAS has important implications for those affected and their relatives, given it enables early initiation of appropriate treatment and genetic counselling. However, the diagnosis is frequently challenging, particularly during the acute phase of an event. We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.
MeSH term(s)	Adult ; Brain/diagnostic imaging ; Brain/physiopathology ; Cardiomyopathies/diagnosis ; Cardiomyopathies/diagnostic imaging ; Cardiomyopathies/physiopathology ; Central Nervous System/diagnostic imaging ; Central Nervous System/pathology ; Deafness/diagnosis ; Deafness/physiopathology ; Diabetes Mellitus/diagnosis ; Diabetes Mellitus/physiopathology ; Diagnosis, Differential ; Female ; Humans ; MELAS Syndrome/diagnosis ; MELAS Syndrome/diagnostic imaging ; MELAS Syndrome/physiopathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mitochondrial Encephalomyopathies/diagnosis ; Mitochondrial Encephalomyopathies/diagnostic imaging ; Mitochondrial Encephalomyopathies/physiopathology ; Vasculitis, Central Nervous System/diagnosis ; Vasculitis, Central Nervous System/diagnostic imaging ; Vasculitis, Central Nervous System/physiopathology
Language	English
Publishing date	2021-10-19
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12101643
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Article ; Online: The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.

Vishnu, Venugopalan Y / Lemmers, Richard J L F / Reyaz, Alisha / Mishra, Rinkle / Ahmad, Tanveer / van der Vliet, Patrick J / Kretkiewicz, Marcelina M / Macken, William L / Efthymiou, Stephanie / Dominik, Natalia / Morrow, Jasper M / Bhatia, Rohit / Wilson, Lindsay A / Houlden, Henry / Hanna, Michael G / Bugiardini, Enrico / van der Maarel, Silvère M / Srivastava, M V Padma

European journal of human genetics : EJHG

2024

Abstract: Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's FSHD participants is expected to live there. To date, ... ...

Abstract	Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's FSHD participants is expected to live there. To date, most FSHD studies have involved individuals of European descent, yet small-scale studies of East-Asian populations suggest that the likelihood of developing FSHD may vary. Here, we present the first genetically confirmed FSHD cohort of Indian ancestry, which suggests a pathogenic FSHD1 allele size distribution intermediate between European and North-East Asian populations and more asymptomatic carriers of 4 unit and 5 unit FSHD1 alleles than observed in European populations. Our data provides important evidence of differences relevant to clinical diagnostics and underscores the need for global FSHD participation in research and trial-ready Indian FSHD cohorts.
Language	English
Publishing date	2024-04-25
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-024-01577-z
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Zs.A 3589: Show issues

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Article ; Online: Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

Cortese, Andrea / Currò, Riccardo / Ronco, Riccardo / Blake, Julian / Rossor, Alex M / Bugiardini, Enrico / Laurà, Matilde / Warner, Tom / Yousry, Tarek / Poh, Roy / Polke, James / Rebelo, Adriana / Dohrn, Maike F / Saporta, Mario / Houlden, Henry / Zuchner, Stephan / Reilly, Mary M

European journal of neurology

2023 Volume 31, Issue 1, Page(s) e16063

Abstract: Background and purpose: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a novel phenotype ... ...

Abstract	Background and purpose: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a novel phenotype associated with CRYAB. Methods: Whole-exome sequencing was performed in two unrelated families with genetically unsolved axonal Charcot-Marie-Tooth disease (CMT2), assessing clinical, neurophysiological and radiological features. Results: The pathogenic CRYAB variant c.358A>G;p.Arg120Gly was segregated in all affected patients from two unrelated families. The disease presented as late onset CMT2 (onset over 40 years) with distal sensory and motor impairment and congenital cataracts. Muscle involvement was probably associated in cases showing mild axial and diaphragmatic weakness. In all cases, nerve conduction studies demonstrated the presence of an axonal sensorimotor neuropathy along with chronic neurogenic changes on needle examination. Discussion: In cases with late onset autosomal dominant CMT2 and congenital cataracts, it is recommended that CRYAB is considered for genetic testing. The identification of CRYAB mutations causing CMT2 further supports a continuous spectrum of expressivity, from myopathic to neuropathic and mixed forms, of a growing number of genes involved in protein degradation and chaperone-assisted autophagy.
MeSH term(s)	Humans ; Charcot-Marie-Tooth Disease/complications ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/diagnosis ; Mutation/genetics ; Genetic Testing ; Phenotype ; Crystallins/genetics ; Cataract/genetics ; Pedigree
Chemical Substances	Crystallins
Language	English
Publishing date	2023-09-29
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1280785-0
ISSN	1468-1331 ; 1351-5101 ; 1471-0552
ISSN (online)	1468-1331
ISSN	1351-5101 ; 1471-0552
DOI	10.1111/ene.16063
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Zs.A 4738: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Differential Diagnoses of Inclusion Body Myositis.

Vivekanandam, Vinojini / Bugiardini, Enrico / Merve, Ashirwad / Parton, Matthew / Morrow, Jasper M / Hanna, Michael G / Machado, Pedro M

Neurologic clinics

2020 Volume 38, Issue 3, Page(s) 697–710

Abstract: Inclusion body myositis is a slowly progressive myopathy, characteristically affecting quadriceps and long finger flexors. Atypical presentations do occur, however, and there is overlap with other myopathies, including inflammatory and hereditary ... ...

Abstract	Inclusion body myositis is a slowly progressive myopathy, characteristically affecting quadriceps and long finger flexors. Atypical presentations do occur, however, and there is overlap with other myopathies, including inflammatory and hereditary etiologies. This article discusses atypical cases and differential diagnoses and considers the role of imaging and histopathology in differentiating inclusion body myositis.
MeSH term(s)	Aged ; Diagnosis, Differential ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Muscular Dystrophies/diagnostic imaging ; Myositis/diagnostic imaging ; Myositis/pathology ; Myositis, Inclusion Body/diagnostic imaging ; Myositis, Inclusion Body/pathology
Language	English
Publishing date	2020-06-11
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1013148-6
ISSN	1557-9875 ; 0733-8619
ISSN (online)	1557-9875
ISSN	0733-8619
DOI	10.1016/j.ncl.2020.03.014
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