Search Our Scientific Publications & Authors

Arthritis Res Ther 2022 Apr 11;24(1):84. Epub 2022 Apr 11.

Department of Medicine, The University of Melbourne at St Vincent's Hospital Melbourne, 41 Victoria Pde, Fitzroy, VIC, 3065, Australia.

Background: Skeletal muscle can be directly affected by systemic sclerosis (SSc); however, a significant burden of SSc-associated myopathy is undetected because clinical parameters such as weakness and creatine kinase (CK) are unreliable biomarkers of muscle involvement. This study presents qualitative and quantitative magnetic resonance imaging (MRI) findings that quantify the prevalence of myopathy and evaluate any association between skeletal and cardiac muscle involvement in SSc.

Methods: Thirty-two patients with SSc who fulfilled the 2013 American College of Rheumatology/European League Against Rheumatism classification criteria underwent skeletal muscle MRI in addition to cardiac MRI. Read More

Neuromuscul Disord 2022 Feb 21. Epub 2022 Feb 21.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.

This study aimed to clarify the characteristics and progressive changes of brain image abnormalities in Duchenne muscular dystrophy (DMD). Brain images of 39 adult patients (median age, 24 years) were retrospectively reviewed, along with intellectual and/or neurodevelopmental test results. On magnetic resonance imaging (n = 13), atrophy of the frontal lobe, pars opercularis (without other frontal atrophy), and cerebellum was observed in 6, 1, and 1 patients, respectively. Read More

Orphanet J Rare Dis 2022 01 31;17(1):29. Epub 2022 Jan 31.

Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.

Background: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malformations and supernumerary or hypoplastic nipples. Generally, GS is associated with in utero lethality in males and most of the reported male patients show mosaicism (only three non-mosaic surviving males have been described so far). Read More

Rev Neurol (Paris) 2022 Apr 16;178(4):398-399. Epub 2021 Nov 16.

Département de neurologie, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Inserm U1127, UMR S 1127, CNRS UMR 7225, faculté de médecine, institut du cerveau, Sorbonne université, 75013 Paris, France. Electronic address:

Sci Rep 2021 11 9;11(1):21903. Epub 2021 Nov 9.

Department of Joint Surgery, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, 570311, Hainan, China.

Spinal cord injury (SCI) is often accompanied by muscle atrophy; however, its underlying mechanisms remain unclear. Here, the molecular mechanisms of muscle atrophy following SCI were investigated. The GSE45550 gene expression profile of control (before SCI) and experimental (14 days following SCI) groups, consisting of Sprague-Dawley rat soleus muscle (n = 6 per group), was downloaded from the Gene Expression Omnibus database, and then differentially expressed gene (DEG) identification and Gene Ontology, pathway, pathway network, and gene signal network analyses were performed. Read More

Brain Sci 2021 Jul 9;11(7). Epub 2021 Jul 9.

Western Clinical School, University of Sydney, Sydney, NSW 2006, Australia.

Amyotrophic lateral sclerosis (ALS) is characterised by progressive dysfunction of the upper and lower motor neurons. The disease can evolve over time from focal limb or bulbar onset to involvement of other regions. There is some clinical heterogeneity in ALS with various phenotypes of the disease described, from primary lateral sclerosis, progressive muscular atrophy and flail arm/leg phenotypes. Read More

World J Clin Cases 2021 Jul;9(20):5647-5654

Department of Korean Medicine Rehabilitation, College of Korean Medicine, Kyung Hee University, Seoul 02447, South Korea.

Background: In Behçet's disease (BD), very few cases of muscular involvement have been reported previously. The natural history and therapeutic protocol for muscular involvement in BD are obscure due to the low incidence of peripheral neuropathy or myopathy in BD. The purpose of our study was to report a rare case of BD with chronic, focal forms of neuromyopathy and review the relevant literature. Read More

Am J Phys Med Rehabil 2021 12;100(12):e191-e193

From the Department of Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor, Michigan.

Abstract: Hirayama disease is a rare neuromuscular disease, which classically presents as lower motor neuron weakness and atrophy in the upper limbs and specifically the C7-T1 myotomes. Proposed pathogenesis relates to microcirculatory dysfunction in the territory of the anterior spinal artery caused by epidural venous plexus engorgement with forward displacement of the posterior dura and spinal cord during neck flexion, leading to chronic ischemic changes in the lower cervical anterior horn cells. Diagnosis hinges upon clinical and radiographic findings, and treatment is generally conservative given the self-limited nature of the disease. Read More

BMC Neurol 2021 Jun 25;21(1):241. Epub 2021 Jun 25.

Department of Medicine IV, Geriatrics, University Hospital, LMU Munich, Munich, Germany.

Background: Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders need to be considered in the differential diagnosis of sarcopenia.

Aim: Based on emblematic case reports and current neuromuscular diagnostic guidelines for three common late-onset neuromuscular disorders, a differential diagnostic approach for geriatric patients presenting with a sarcopenic phenotype is given. Read More

Brain Dev 2021 Sep 3;43(8):857-862. Epub 2021 Jun 3.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan. Electronic address:

Background: The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot-Marie-Tooth disease, axonal, type 20, spinal muscular atrophy, lower extremity-predominant 1, and autosomal dominant mental retardation 13 with neuronal migration defects. We report two patients with DYNC1H1 mutations who had intractable epilepsy and intellectual disability (ID), one with and one without pachygyria. Read More

Int J Mol Sci 2021 Mar 2;22(5). Epub 2021 Mar 2.

Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan-si 31151, Korea.

The cell-cell/cell-matrix interactions between myoblasts and their extracellular microenvironment have been shown to play a crucial role in the regulation of in vitro myogenic differentiation and in vivo skeletal muscle regeneration. In this study, by harnessing the heparin-mimicking polymer, poly(sodium-4-styrenesulfonate) (PSS), which has a negatively charged surface, we engineered an in vitro cell culture platform for the purpose of recapitulating in vivo muscle atrophy-like phenotypes. Our initial findings showed that heparin-mimicking moieties inhibited the fusion of mononucleated myoblasts into multinucleated myotubes, as indicated by the decreased gene and protein expression levels of myogenic factors, myotube fusion-related markers, and focal adhesion kinase (FAK). Read More

Curr Opin Pharmacol 2021 04 15;57:148-156. Epub 2021 Mar 15.

Physical and Rehabilitative Medicine, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.

The generalized skeletal muscle disorder that involves (in elderly subjects) the progressive loss of muscle mass and function has been defined sarcopenia, whereas the rapid-onset (traumatic or surgical) and focal (unilateral) loss of skeletal muscle with resultant functional impairment has been defined volumetric muscle loss. Different tools and approaches are commonly used in the clinical settings to quantify the loss of muscle or lean mass and to assess the consequent motor impairment. This review describes the technical principles and provides a summary of the main parameters that can be obtained to assess lean mass (and its distribution) or muscle size (and its structure) through the two imaging techniques most easily accessible and therefore frequently adopted in the clinical practice: dual-energy X-ray absorptiometry and muscle ultrasonography. Read More

J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211001646

University of Alabama at Birmingham, AL, USA.

Patients with progressive hand weakness may be seen in ambulatory medical clinics or in emergency rooms due to direct effects on activities of daily living or inadvertent injury associated with overuse or attempts to maintain normal function. It is important to recognize potential cause(s) and perform appropriate diagnostic tests and referrals that aid guide appropriate treatment that may lead to good outcomes. Hirayama disease is an underrecognized disorder in young adults due to an asymmetric growth-associated cervical spinal cord compression injury. Read More

Eur J Paediatr Neurol 2021 Mar 19;31:61-69. Epub 2021 Feb 19.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genova, Italy; Unit of Child Neuropsychiatry, ASST Fatebenefratelli Sacco, Milano, Italy.

Objective: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. Few studies describe the electroclinical features of epilepsy in patients with CASK pathogenic variants and their relationship with developmental delay.

Methods: this national multicentre cohort included genetically confirmed patients with different CASK pathogenic variants. Read More

Cancer Res 2021 02 21;81(4):873-884. Epub 2020 Dec 21.

Department of Pancreatic Surgery, Pancreatic Cancer Institute, Cancer Institute, Fudan University Shanghai Cancer Center, Shanghai, China.

The role and significance of liver-derived cytokines in cancer-associated cachexia syndrome remain elusive. Here we report that combinatorial counterbalances of the leptin and Igf1 signaling pathways in hepatocellular carcinoma (HCC) models significantly relieves cachexia. Double transgenic zebrafish models of HCC that stably displayed focal lesions, anorexia, and wasting of adipose and muscle tissues were first generated. Read More

Clin Neurophysiol 2021 01 4;132(1):106-113. Epub 2020 Nov 4.

Academic Unit of Neurology, School of Medicine, Trinity College Dublin, The University of Dublin, Ireland. Electronic address:

Objective: Poliomyelitis results in changes to the anterior horn cell. The full extent of cortical network changes in the motor physiology of polio survivors has not been established. Our aim was to investigate how focal degeneration of the lower motor neurons (LMN) in infancy/childhood affects motor network connectivity in adult survivors of polio. Read More

Nat Commun 2020 09 9;11(1):4510. Epub 2020 Sep 9.

Biozentrum, University of Basel, Basel, Switzerland.

With human median lifespan extending into the 80s in many developed countries, the societal burden of age-related muscle loss (sarcopenia) is increasing. mTORC1 promotes skeletal muscle hypertrophy, but also drives organismal aging. Here, we address the question of whether mTORC1 activation or suppression is beneficial for skeletal muscle aging. Read More

Biochem Biophys Res Commun 2020 09 30;530(1):107-114. Epub 2020 Jul 30.

Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA; Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA. Electronic address:

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival motor neuron (SMN1) gene. An important hallmark of disease progression is the pathology of neuromuscular junctions (NMJs). Affected NMJs in the SMA context exhibit delayed maturation, impaired synaptic transmission, and loss of contact between motor neurons and skeletal muscle. Read More

Handb Clin Neurol 2020 ;172:201-218

Department of Neurology, Columbia University Irving Medical Center, New York, NY, United States. Electronic address:

Many neuromuscular disorders preexist or occur during pregnancy. In some cases, pregnancy unmasks a latent hereditary disorder. Most available information is based on case reports or series or retrospective clinical experience or patient surveys. Read More

Cell Tissue Res 2020 Sep 16;381(3):461-478. Epub 2020 Jul 16.

Instituto de Investigación Sanitaria Valdecilla (IDIVAL) and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.

Spinal muscular atrophy (SMA) is caused by a deletion or mutation of the survival motor neuron 1 (SMN1) gene. Reduced SMN levels lead to motor neuron degeneration and muscular atrophy. SMN protein localizes to the cytoplasm and Cajal bodies. Read More

Dtsch Med Wochenschr 2020 07 2;145(13):887-894. Epub 2020 Jul 2.

Muscle pain as a common symptom in daily practice frequently occurs as a non-specific accompanying symptom in multiple internal and neurological diseases. Primarily inflammatory or autoimmune muscular diseases are causing muscle pain. However, a number of non-inflammatory causes of pain can also be considered for differential diagnosis. Read More

World Neurosurg 2020 08 11;140:180-187. Epub 2020 May 11.

Department of Spine Surgery, Ganga Hospital, Coimbatore, India.

Background: Hirayama disease (HD) is a rare focal amyotrophy, commonly reported in adolescent Asian males and characterized by unilateral or asymmetric distal upper extremity weakness. This disease exhibits an indolent course of progression over the initial 3-4 years, followed by a stage of stabilization. The diagnosis is confirmed by demonstration of enhanced posterior epidural space and dynamic spinal cord compression on cervical flexion magnetic resonance imaging. Read More

J Diabetes Res 2020 13;2020:7614035. Epub 2020 Jan 13.

Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University School of Medicine, Kanagawa, Japan.

Background: Type 2 diabetes (T2D) is a known risk factor for diabetic kidney disease (DKD) and sarcopenia in older patients. Because there may be an interaction between DKD and sarcopenia, the aim of the present study is to investigate the relationship between urinary levels of liver-type fatty acid-binding protein (L-FABP) and sarcopenia using a novel rat model of T2D.

Methods: Male spontaneously diabetic Torii (SDT) fatty rats ( = 5) at 16 weeks of age were used as an animal model of T2D. Read More

J Cachexia Sarcopenia Muscle 2020 06 10;11(3):802-819. Epub 2020 Mar 10.

Department of Biomedical Sciences, University of Padova, Padova, Italy.

Background: Unloading/disuse induces skeletal muscle atrophy in bedridden patients and aged people, who cannot prevent it by means of exercise. Because interventions against known atrophy initiators, such as oxidative stress and neuronal NO synthase (nNOS) redistribution, are only partially effective, we investigated the involvement of melusin, a muscle-specific integrin-associated protein and a recognized regulator of protein kinases and mechanotransduction in cardiomyocytes.

Methods: Muscle atrophy was induced in the rat soleus by tail suspension and in the human vastus lateralis by bed rest. Read More

Semin Pediatr Neurol 2019 12 5;32:100771. Epub 2019 Sep 5.

Department of Neurology, University of California, San Francisco, San Francisco, CA. Electronic address:

The peripheral nervous system (PNS) is composed of motor neurons, nerve roots, plexuses, peripheral nerves (motor, sensory and autonomic), neuromuscular junction, and skeletal muscles. Disorders of the PNS in neonates most frequently cause weakness, hypotonia, and contractures, which may be generalized or focal. Since these findings may also occur with brain and spinal cord lesions, key features of the history and neurologic exam, together with diagnostic testing, are helpful in reaching a diagnosis. Read More

J Clin Neuromuscul Dis 2019 Dec;21(2):107-111

Division of Neurology, Department of Medicine, The Ottawa Hospital and University of Ottawa, Ottawa, ON, Canada.

Monomelic pure motor amyotrophy may seem to be an ominous syndrome as it leads to consideration of motor neuron disease. We present a series of 3 very similar cases where unilateral pure distal lower motor neuron paresis and atrophy was limited to the C8-T1 myotomes, without long-tract signs. Electrodiagnostic studies were in keeping with a restricted anterior horn cell disorder. Read More

J Cardiovasc Surg (Torino) 2019 Dec 9;60(6):672-678. Epub 2019 Oct 9.

Department of Radiology, Medical Imaging Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands -

Background: Sarcopenia, commonly determined by measuring skeletal muscle mass index (SMI) at the third lumbar level, has been identified as a predictor of clinical outcome in a variety of diseases. For patients with peripheral arterial occlusive disease (PAOD), we hypothesized that lower extremity SMI (LESMI) might be a more precise predictor of outcome and the extent of chronic ischemia than the systemic muscle mass at the L3 level. We investigated the association between complete muscle volume and muscle area derived with single-slice 2-dimensional measurements in the legs to identify at which level cross-sectional single-slice measurements are most representative of the muscle volume and investigated whether LESMI is associated with systemic sarcopenia and PAOD severity. Read More

Sci Rep 2019 08 6;9(1):11392. Epub 2019 Aug 6.

Acceleron Pharma, Cambridge, MA, USA.

Skeletal muscle is under inhibitory homeostatic regulation by multiple ligands of the transforming growth factor-β (TGFβ) superfamily. Follistatin is a secreted protein that promotes muscle growth and function by sequestering these ligands extracellularly. In the present study, we evaluated the potential of ACE-083 - a locally acting, follistatin-based fusion protein - as a novel therapeutic agent for focal or asymmetric myopathies. Read More

Mol Genet Genomic Med 2019 08 18;7(8):e825. Epub 2019 Jun 18.

Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, China.

Background: Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late onset and a slowly progressive course, the severe, recessively inherited form of CRYAB (alpha-B crystallin) gene-related infantile MFM has been suggested. Here, we report an infant in a Chinese family with fatal neonatal-onset hypertonic MFM with a novel CRYAB homozygous variant (c.3G > A (p. Read More

Eur J Paediatr Neurol 2019 Mar 29;23(2):254-261. Epub 2018 Dec 29.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.

Aims: To define the neurological and neuropathological alterations caused by SYNE1 mutations.

Methods: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. Read More