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Source: Journal of the Neurological Sciences
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Total 73 results found since Jan 2013.
Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositis
We report on an unusual case of mutations in the TTN gene presenting with inflammatory infiltrates in the muscle biopsy. Only after intensive immune-modulating therapies failed, a genetic myopathy was considered. Exome sequencing and search for mutated muscle protein-encoding genes disclosed compound heterozygous mutations in TTN: K26320T and A6135G.
Source: Journal of the Neurological Sciences - March 6, 2015 Category: Neurology Authors: Ron Dabby, Menachem Sadeh, David Hilton-Jones, Paul Plotz, Peter Hackman, Anna Vihola, Bjarne Udd, Esther Leshinsky-Silver Source Type: research
Statin Induced Necrotizing Autoimmune Myopathy
Statin induced necrotizing autoimmune myopathy (SINAM) is a recently characterized entity belonging to the spectrum of statin myotoxicity. It is a more severe form, and is usually associated with significant proximal muscle weakness, strikingly elevated creatine kinase levels and persistent symptoms despite statin discontinuation. The characteristic pathological finding is a marked muscle fiber necrosis with minimal or no inflammation on muscle biopsy. SINAM is an autoimmune disorder associated with an antibody against 3-hydroxy-3-methyglutaryl-coenzyme A reductase (HMGCR), and the antibody titer is a useful marker for ass...
Source: Journal of the Neurological Sciences - March 2, 2015 Category: Neurology Authors: Suma Babu, Yuebing Li Tags: Review Article Source Type: research
Eye movement changes in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease due to ECGF1 gene mutations (chromosome 22) causing multiple deletions and depletion of mitochondrial DNA in skeletal muscle. Determination of the activity of the gene-product tymidine phosphorylase (TP) in leukocytes and genetic analysis are diagnostic. External ophthalmoplegia, severe gastrointestinal dysmotility, cachexia, peripheral sensory-motor neuropathy, diffuse myopathy and leukoencephalopathy are typical findings.
Source: Journal of the Neurological Sciences - January 28, 2015 Category: Neurology Authors: Claudia Vinciguerra, Pamela Federighi, Francesca Rosini, Elena Pretegiani, Elena Cardaioli, Maria T. Dotti, Francesco Sicurelli, Antonio Federico, Alessandra Rufa Tags: Letter to the Editor Source Type: research
Myopathy during treatment with the antianginal drug ranolazine
We present an adult patient who developed subacute progressive muscle weakness and exercise-induced myalgia, soon after increasing the daily dose of ranolazine, in the setting of therapy with simvastatin. CK persisted normal throughout the duration of the weakness and muscle biopsy showed a lipid storage myopathy for which no underlying genetic defect was identified. Discontinuation of both drugs resulted in clinical improvement.
Source: Journal of the Neurological Sciences - October 31, 2014 Category: Neurology Authors: Charles D. Kassardjian, Xia Tian, Georgirene Vladutiu, Lee-Jun Wong, Margherita Milone Tags: Short Communication Source Type: research
Gait characteristics in a canine model of X-linked myotubular myopathy
X-linked myotubular myopathy (XLMTM) is a fatal pediatric disease where affected boys display profound weakness of the skeletal muscles. Possible therapies are under development but robust outcome measures in animal models are required for effective translation to human patients. We established a naturally-occurring canine model, where XLMTM dogs display clinical symptoms similar to those observed in humans. The aim of this study was to determine potential endpoints for the assessment of future treatments in this model.
Source: Journal of the Neurological Sciences - August 29, 2014 Category: Neurology Authors: Melissa A. Goddard, Emily Burlingame, Alan H. Beggs, Anna Buj-Bello, Martin K. Childers, Anthony P. Marsh, Valerie E. Kelly Source Type: research
Polymyositis in solid organ transplant recipients receiving tacrolimus
This study reports two male patients who underwent solid organ transplantation (liver and kidney). After transplant, the patients received continuous immunosuppressive therapy with oral tacrolimus and later presented clinical manifestations and laboratory signs of myopathy. Muscle biopsies of both patients clearly documented an inflammatory myopathy with the histological features of polymyositis including CD8+ T cells which invaded healthy muscle fibers and expressed granzyme B and perforin, many CD68+ macrophages and MHC class I antigen upregulation on the surface of most fibers. Because of the temporal association while ...
Source: Journal of the Neurological Sciences - August 8, 2014 Category: Neurology Authors: Gaetano Vattemi, Matteo Marini, Marzia Di Chio, Maria Colpani, Valeria Guglielmi, Giuliano Tomelleri Tags: Short Communications Source Type: research
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles
Abstract: We herein report a 32-year-old woman with adult-onset reducing body myopathy (RBM) who had a mutation in the four-and-a-half LIM domain 1 gene (FHL1) and showed a marked asymmetrical involvement of sternocleidomastoid and trapezius muscles. At 30years of age she noticed bilateral foot drop, and over the next two years developed difficulty raising her right arm. At 32years of age she was admitted to our hospital for a diagnostic evaluation. Neurological examination showed moderate weakness and atrophy of her right sternocleidomastoid muscle, right trapezius muscle, and bilateral upper proximal muscles. There were ...
Source: Journal of the Neurological Sciences - June 2, 2014 Category: Neurology Authors: Takayuki Fujii, Shintaro Hayashi, Nobutoshi Kawamura, Masa-aki Higuchi, Jun Tsugawa, Yasumasa Ohyagi, Yukiko K. Hayashi, Ichizo Nishino, Jun-ichi Kira Tags: Short Communications Source Type: research
An 18F-FDG PET study of cervical muscle in parkinsonian anterocollis
In conclusion, we were able to demonstrate hypermetabolism of superficial and deep cervical flexors with muscle 18F-FDG PET/CT in dystonic anterocollis patients, but not in parkinsonian anterocollis patients. The hypermetabolic changes seen in parkinsonian anterocollis patients in posterior muscles may be compensatory. Alternative explanations for anterocollis include myopathy of the cervical extensors, or unbalanced rigidity of the cervical flexors, but this remains to be proven.Highlights:
Source: Journal of the Neurological Sciences - April 11, 2014 Category: Neurology Authors: Gonzalo J. Revuelta, Jaime Montilla, Michael Benatar, Alan Freeman, Thomas Wichmann, Hyder A. Jinnah, Mahlon R. DeLong, Stewart A. Factor Tags: Original Articles Source Type: research
Congenital fiber type disproportion myopathy caused by LMNA mutations
Abstract: A boy, who had shown muscle weakness and hypotonia from early childhood and fiber type disproportion (FTD) with no dystrophic changes on muscle biopsy, was initially diagnosed as having congenital fiber type disproportion (CFTD). Subsequently, he developed cardiac conduction blocks. We reconsidered the diagnosis as possible LMNA-myopathy and found a heterozygous mutation in the LMNA gene. This encouraged us to search for LMNA mutations on 80 patients who met the diagnostic criteria of CFTD with unknown cause. Two patients including the above index case had heterozygous in-frame deletion mutations of c.367_369delA...
Source: Journal of the Neurological Sciences - March 18, 2014 Category: Neurology Authors: Sachiko Kajino, Kayo Ishihara, Kanako Goto, Keiko Ishigaki, Satoru Noguchi, Ikuya Nonaka, Makiko Osawa, Ichizo Nishino, Yukiko K. Hayashi Tags: Original Articles Source Type: research
Steroid myopathy in patients with chronic respiratory diseases
Abstract: Background: Corticosteroid-induced myopathy is a well known clinical entity, and experimental studies showed decreased rate of protein synthesis and increased rate of protein breakdown in muscles of chronically treated animals.Objective: The present observational study was aimed to evaluate skeletal muscle functions in asthmatics and patients with other chronic respiratory diseases treated by inhaled or oral corticosteroids.Methods: Thirty six patients with respiratory diseases were included into the study. The physician-rated peripheral motor deficits scale, stepper test and ankle/wrist index were used for asses...
Source: Journal of the Neurological Sciences - December 30, 2013 Category: Neurology Authors: Oleg S. Levin, Anna G. Polunina, Marina A. Demyanova, Fedor V. Isaev Tags: Original Articles Source Type: research
Rhabdomyolysis in an elderly multitreated patient: Multiple drug interactions after statin withdrawal
We report rhabdomyolysis in an elderly patient, in multitreatment with different potentially myotoxic medications, taking place seven months after atorvastatin discontinuation. Affected by ischaemic heart disease, arterial hypertension and dementia-related behaviour disturbances, the patient was receiving angiotensin 2-receptor inhibitors, beta-blockers, vasodilators, diuretics, salycilates, allopurinol, proton pump inhibitors, antipsychotics and antidepressants. He had taken atorvastatin for 14years, with constantly normal creatine-kinase plasma levels. Two months after addition of the antianginal drug ranolazine, creatin...
Source: Journal of the Neurological Sciences - November 19, 2013 Category: Neurology Authors: Federica Ginanneschi, Nila Volpi, Fabio Giannini, Raffaele Rocchi, Donatella Donati, Margherita Aglianò, Paola Lorenzoni, Alessandro Rossi Tags: Short Communications Source Type: research
Decreased skeletal muscle mitochondrial DNA in patients with statin-induced myopathy
Abstract: Statins are widely used to treat hyperlipidemia and lower cardiovascular disease risk. While statins are generally well tolerated, some patients experience statin-induced myopathy (SIM). Statin treatment has been associated with mitochondrial dysfunction and mitochondrial DNA (mtDNA) depletion. In this retrospective study, skeletal muscle biopsies from patients diagnosed with SIM were studied. These were compared with biopsies from patients clinically assessed as having statin-unrelated myopathy but whose biopsy showed no or negligible pathology. For each biopsy sample, mtDNA was quantified relative to nuclear DN...
Source: Journal of the Neurological Sciences - January 14, 2013 Category: Neurology Authors: Henry A.J. Stringer, Gurmeet K. Sohi, John A. Maguire, Hélène C.F. Côté Tags: Original Articles Source Type: research
