Search results for: Robert D. S. Pitceathly

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Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry

Chiara Pizzamiglio, Robert D. S. Pitceathly, Michael P. Lunn, Stefen Brady, more

European Journal of Neurology > 30 > 2 > 399 - 412

Background and purpose Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS‐CoV‐2 is limited. The aim of this study was to determine factors associated with the severity of COVID‐19 outcomes in people with NMDs. Methods Cases of NMD, of any age, and confirmed/presumptive COVID‐19, submitted to the International Neuromuscular COVID‐19 Registry...

article

Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines

Michelle S. Balaratnam, Ann Donnelly, Honey Padilla, Sara Simeoni, more

Neuromodulation: Technology at the Neural Interface > 23 > 7 > 991 - 995

Objectives Intrathecal baclofen (ITB) pumps are an effective treatment for spasticity; however infection rates have been reported in 3–26% of patients in the literature. The multidisciplinary ITB service has been established at The National Hospital for Neurology and Neurosurgery, UCLH, Queen Square, London for over 20 years. Our study was designed to clarify the rate of infection in our ITB patient...

article

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Alejandro Horga, Catherine E. Woodward, Alberto Mills, Isabel Pareés, more

Human Genetics > 2019 > 138 > 11-12 > 1313-1322

Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivity in heterozygous females. Here, we report the first set of monozygotic twin females with PDC deficiency, caused by a novel, de novo heterozygous missense...

article

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study

Yi Shiau Ng, Mika H. Martikainen, Gráinne S. Gorman, Alasdair Blain, more

Annals of Neurology > 86 > 2 > 310 - 315

Distinct clinical syndromes have been associated with pathogenic MT‐ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic features...

article

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

Robert D. S. Pitceathly, Jasper M. Morrow, Christopher D. J. Sinclair, Cathy Woodward, more

European Radiology > 2016 > 26 > 1 > 130-137

Objectives Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extra-ocular muscles (EOMs) and investigate whether quantitative MRI provides clinically relevant measures of disease. Methods Patients with CPEO due to single mitochondrial DNA deletions...

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Search results for: Robert D. S. Pitceathly

Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry

Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

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