Search results for: Jasper M Morrow

Items from 1 to 15 out of 15 results

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Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI

Mostafa Elmansy, Jasper M. Morrow, Sachit Shah, Arne Fischmann, more

Introduction/aims Inclusion body myositis (IBM) is a myopathic condition but in some patients has been associated with an axonal length‐dependent polyneuropathy. In this study, we quantified the cross‐sectional area of the sciatic and tibial nerves in patients with IBM comparing with Charcot–Marie–Tooth disease type 1A (CMT1A) and healthy controls using magnetic resonance neurography (MRN). Methods...

article

The long exercise test as a functional marker of periodic paralysis

Ana Ribeiro, Karen J. Suetterlin, Iwona Skorupinska, S. Veronica Tan, more

Muscle & Nerve > 65 > 5 > 581 - 585

Aims The aim of this study was to evaluate the sensitivity of the long exercise test (LET) in the diagnosis of periodic paralysis (PP) and assess correlations with clinical phenotypes and genotypes. Methods From an unselected cohort of 335 patients who had an LET we analyzed 67 patients with genetic confirmation of PP and/or a positive LET. Results 32/45 patients with genetically confirmed PP...

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Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

Feifei Tao, Gary W. Beecham, Adriana P. Rebelo, John Svaren, more

Annals of Neurology > 85 > 3 > 316 - 330

Objective Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot–Marie–Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8 years. CMT1A is caused in most patients by a uniformly sized 1...

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Misdiagnosis is an important factor for diagnostic delay in McArdle disease

Renata Siciliani Scalco, Jasper M. Morrow, Suzanne Booth, Sherryl Chatfield, more

Neuromuscular Disorders > 2017 > 27 > 9 > 852-855

Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically...

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Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

Alexander M. Rossor, Jasper M. Morrow, James M. Polke, Sinead M. Murphy, more

Neuromuscular Disorders > 2017 > 27 > 1 > 50-56

Mutations in HSPB1 are one of the commonest causes of distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models of the disease have identified HDAC6 inhibitors as promising treatments for the condition paving the way for human trials. A detailed phenotype and natural history study of HSPB1 neuropathy is therefore required in order to inform the duration and outcome measures of any future...

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Stability and sensitivity of water T₂ obtained with IDEAL‐CPMG in healthy and fat‐infiltrated skeletal muscle

Christopher D.J. Sinclair, Jasper M. Morrow, Robert L. Janiczek, Matthew R.B. Evans, more

NMR in Biomedicine > 29 > 12 > 1800 - 1812

Quantifying muscle water T₂ (T₂‐water) independently of intramuscular fat content is essential in establishing T₂‐water as an outcome measure for imminent new therapy trials in neuromuscular diseases. IDEAL‐CPMG combines chemical shift fat–water separation with T₂ relaxometry to obtain such a measure. Here we evaluate the reproducibility and B₁ sensitivity of IDEAL‐CPMG T₂‐water and fat fraction (f...

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Muscle magnetic resonance imaging in congenital myasthenic syndromes

Sarah Finlayson, Jasper M. Morrow, Pedro M. Rodriguez Cruz, Christopher D.J. Sinclair, more

Muscle & Nerve > 54 > 2 > 211 - 219

IntroductionIn this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS). MethodsTwenty‐six patients with 9 CMS subtypes and 10 controls were imaged. T1‐weighted (T1w) and short‐tau inversion recovery (STIR) 3‐Tesla MRI images obtained at thigh and calf levels were scored for severity. ResultsOverall mean the T1w score was increased in GFPT1 and DPAGT1...

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...

article

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

Jasper M Morrow, Christopher D J Sinclair, Arne Fischmann, Pedro M Machado, more

The Lancet Neurology > 2016 > 15 > 1 > 65-77

A substantial impediment to progress in trials of new therapies in neuromuscular disorders is the absence of responsive outcome measures that correlate with patient functional deficits and are sensitive to early disease processes. Irrespective of the primary molecular defect, neuromuscular disorder pathological processes include disturbance of intramuscular water distribution followed by intramuscular...

article

Improved anatomical reproducibility in quantitative lower‐limb muscle MRI

Arne Fischmann, Jasper M. Morrow, Christopher D.J. Sinclair, Mary M. Reilly, more

Journal of Magnetic Resonance Imaging > 39 > 4 > 1033 - 1038

PurposeTo compare the influence of two limb positions and slice prescription using scout‐image–based and surface‐anatomy–based methods on the reproducibility of quantitative MRI of lower‐limb muscles. Materials and MethodsTen healthy subjects were scanned at 3 Tesla with a two‐dimensional turbo spin‐echo T1‐weighted acquisition. Imaging was performed at thigh and calf level in two subject limb positions...

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Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers

Jasper M. Morrow, Christopher D. J. Sinclair, Arne Fischmann, Mary M. Reilly, more

European Radiology > 2014 > 24 > 7 > 1610-1620

Objectives Quantitative magnetic resonance imaging (MRI) can potentially meet the pressing need for objective, sensitive, reproducible outcome measures in neuromuscular disease trials. We tested, in healthy volunteers, the consistency, reliability and sensitivity to normal inter-subject variation of MRI methods targeted to lower limb muscle pathology to inform the design of practical but comprehensive...

article

Ongoing Developments in Sporadic Inclusion Body Myositis

Pedro M. Machado, Mhoriam Ahmed, Stefen Brady, Qiang Gang, more

Current Rheumatology Reports > 2014 > 16 > 12 > 1-13

Sporadic inclusion body myositis (IBM) is an acquired muscle disorder associated with ageing, for which there is no effective treatment. Ongoing developments include: genetic studies that may provide insights regarding the pathogenesis of IBM, improved histopathological markers, the description of a new IBM autoantibody, scrutiny of the diagnostic utility of clinical features and biomarkers, the refinement...

article

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias

Jasper M. Morrow, Emma Matthews, Dipa L. Raja Rayan, Arne Fischmann, more

Neuromuscular Disorders > 2013 > 23 > 8 > 637-646

We assessed the presence, frequency and pattern of MRI abnormalities in non-dystrophic myotonia patients. We reviewed T1-weighted and STIR (short-tau-inversion-recovery) 3T MRI sequences of lower limb muscles at thigh and calf level in 21 patients with genetically confirmed non-dystrophic myotonia: 11 with CLCN1 mutations and 10 with SCN4A mutations, and 19 healthy volunteers. The MRI examinations...

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Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

Ellen Cottenie, Manoj P. Menezes, Alexander M. Rossor, Jasper M. Morrow, more

Neuromuscular Disorders > 2013 > 23 > 5 > 399-403

Charcot–Marie–Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles. We describe a patient with a previous diagnosis of CMT1 who presented with a two year history of rapidly progressive...

article

Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia

Jasper M. Morrow, Shirley D’Sa, Rupert A. Page, Mahir Al Hilali, more

Journal of Neurology > 2012 > 259 > 3 > 571-573

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