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Eur J Paediatr Neurol 2018 Dec 29. 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

Can J Neurol Sci 2018 Nov;45(6):605-619

2Department of Neurology and Clinical Neurophysiology,Donders Institute for Brain,Cognition and Behaviour,Radboud University Medical Center,Nijmegen,The Netherlands.

Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. Read More

Neuromuscul Disord 2018 Dec 29;28(12):1006-1011. Epub 2018 Aug 29.

Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.

We report a 9-year-old girl homozygous for a loss-of-function mutation in the PIEZO-2 gene. She showed generalized muscular hypotonia with severe scoliosis, joint deformities, deficient proprioceptive function and selective atrophy and signal alterations of both gastrocnemii on whole body MRI scan. Light microscopic and ultrastructural examination showed few atrophic fibres, abnormal mitochondria, focal myofibrillar disruption and endomysial capillary microangiopathy. Read More

Neuromuscul Disord 2018 Nov 29;28(11):927-937. Epub 2018 Aug 29.

Department of Pathobiology, Auburn University College of Veterinary Medicine, Auburn, AL 36849, USA; Scott-Ritchey Research Center, Auburn University College of Veterinary Medicine, Auburn, AL 36849, USA.

In humans, dystrophin mutations cause the X-linked recessive disorder known as Duchenne muscular dystrophy (DMD). These mutations result in skeletal and cardiac muscle damage with mortality increasingly associated with cardiomyopathy. We have identified a novel dystrophin mutation in exon 21 in a line of Australian Labradoodles; affected dogs develop progressive clinical signs including poor weight gain and weight loss, gait abnormalities, exercise intolerance, skeletal muscle atrophy, macroglossa, ptyalism, dysphagia, kyphosis, and a plantigrade stance. Read More

Neurol Sci 2019 Jan 3;40(1):105-112. Epub 2018 Oct 3.

Research Center of Neurology, Moscow, Russia.

The fourteen cases of Hirayama disease (HD) are presented in this article. HD is seldom disease characterized by juvenile muscular atrophy of upper extremities and benign course. All cases were diagnosed in the Research Center of Neurology (Moscow, Russia) during the year 2015-2017. Read More

Mol Ther 2018 Sep 27;26(9):2231-2242. Epub 2018 Aug 27.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA. Electronic address:

Mutations of the DYSF gene leading to reduced dysferlin protein level causes limb girdle muscular dystrophy type 2B (LGMD2B). Dysferlin facilitates sarcolemmal membrane repair in healthy myofibers, thus its deficit compromises myofiber repair and leads to chronic muscle inflammation. An experimental therapeutic approach for LGMD2B is to protect damage or improve repair of myofiber sarcolemma. Read More

Acta Myol 2018 Jun 1;37(2):117-120. Epub 2018 Jun 1.

Neuromuscular Disease Unit, Coimbra University and Hospital Centre, Coimbra, Portugal.

A group of heterogeneous muscle diseases are caused by dystrophin gene () mutations. We hereby present a male patient with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal right upper limb. At the age of 58, neurological examination revealed severe atrophy of right thenar muscles, flexion contractures on the right elbow, wrist and fingers, bilateral calf hypertrophy, myotatic areflexia in the upper limbs and hyporeflexia in the lower limbs. Read More

J Neurosci Methods 2018 Oct 26;308:142-150. Epub 2018 Jul 26.

Russell H. Morgan Dept. of Radiology and Radiological Science, Division of MR Research, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA; Cellular Imaging Section and Vascular Biology Program, Institute for Cell Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA; Dept. of Chemical & Biomolecular Engineering, The Johns Hopkins University Whiting School of Engineering, Baltimore, MD, 21205, USA; Dept. of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA; Dept of Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. Electronic address:

Background: Intrasciatic nerve injection of the Ricinus communis agglutinin (RCA or ricin) causes degeneration of motor neurons (MNs) with functional deficits, such as those that occur in amyotrophic lateral sclerosis (ALS). The objective of this study was to develop a new comprehensive platform for quantitative evaluation of MN loss, muscular atrophy and behavioral deficits using different ricin injection regimens.

New Method: Fluorogold (FG)-guided stereological quantification of MNs, in vivo magnetic resonance imaging (MRI) of muscular atrophy, and CatWalk behavioral testing were used to evaluate the outcome of rats treated with different ricin regimens (RCA60 0. Read More

Vet Clin North Am Equine Pract 2018 Aug 28;34(2):253-276. Epub 2018 May 28.

Department of Large Animal Clinical Sciences, Michigan State University, McPhail Equine Performance Center, 736 Wilson Road, East Lansing, MI 48824, USA. Electronic address:

Optimal function of skeletal muscle is essential for successful athletic performance. Even minor derangements in locomotor muscle function will impact power output, coordination, stamina, and desire to work during exercise. In this review, the presenting clinical signs, differential diagnoses, approach to diagnostic testing and treatment of muscle atrophy and weakness, focal muscle strain, and exertional myopathies are discussed. Read More

Clin Neuropathol 2018 Jul/Aug;37(4):186-189

Focal myositis is a very rare form of inflammatory myopathy, with unknown etiology. We describe a 44-year-old previously healthy man who noticed a painless swelling on his left forearm, following trauma over the left cubital fossa. The swelling grew progressively over 2 years. Read More

J Neurosurg Spine 2018 Jun 23;28(6):621-629. Epub 2018 Mar 23.

OBJECTIVE Various neurological diseases are known to cause progressive painless paresis of the upper limbs. In this study the authors describe the previously unspecified syndrome of compression-induced painless cervical radiculopathy with predominant motor deficit and muscular atrophy, and highlight the clinical and radiological characteristics and outcomes after surgery for this rare syndrome, along with its neurological differential diagnoses. METHODS Medical records of 788 patients undergoing surgical decompression due to degenerative cervical spine diseases between 2005 and 2014 were assessed. Read More

Radiographics 2018 Mar-Apr;38(2):500-522. Epub 2018 Feb 16.

From the Department of Radiology, UCSD Medical Center, San Diego, Calif (E.S., M.N.P.); Department of Radiology, Philippine Orthopedic Center, Quezon City, Maria Clara Street, Santa Mesa Heights, Quezon City, Metro Manila, Philippines 1100 (D.V.F.); and Department of Radiology, Hospital Pablo Tobón Uribe, Medellín, Colombia (C.M.G.).

Atraumatic disorders of skeletal muscles include congenital variants; inherited myopathies; acquired inflammatory, infectious, or ischemic disorders; neoplastic diseases; and conditions leading to muscle atrophy. These have overlapping appearances at magnetic resonance (MR) imaging and are challenging for the radiologist to differentiate. The authors organize muscle disorders into four MR imaging patterns: (a) abnormal anatomy with normal signal intensity, (b) edema/inflammation, (c) mass, and (d) atrophy, highlighting each of their key clinical and imaging findings. Read More

Zhonghua Nei Ke Za Zhi 2017 Nov;56(11):842-845

Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.

Ten patients diagnosed with multifocal motor neuropathy (MMN) were recruited in the Department of Neurology at Chinese PLA General Hospital from January 1, 2009 to August 31, 2015. The clinical and electrophysiological features were analyzed retrospectively. All patients complained of progressive asymmetric limb weakness, which was more severe in distal than in proximal. Read More

J Pak Med Assoc 2017 Aug;67(8):1280-1282

Department of Neurology, Akdeniz University, School of Medicine, Antalya, Turkey.

Hirayama disease (HD) was first reported by Hirayama et al. in 1959. The disease is considered as a type of benign focal motor neuron disease that primarily affects upper limbs of young males. Read More

Int J Rheum Dis 2018 Jan 7;21(1):233-239. Epub 2017 Aug 7.

Department of Rheumatology, Hospital Conde de Bertiandos, ULSAM, Ponte de Lima, Portugal.

Aim: Idiopathic inflammatory myopathies (IIM) comprise a group of rare and heterogeneous diseases difficult to diagnose and follow up. Precise measures for assessing disease activity are not available at the moment. Our objective was to evaluate the usefulness of ultrasonography (US) as a monitoring tool in IIM. Read More

BMC Neurol 2017 Jun 23;17(1):118. Epub 2017 Jun 23.

Department of Neurology, MRC and Movement Disorder Center, Seoul National University Hospital, Parkinson Study Group, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, South Korea.

Background: Camptocormia is severe flexion of the thoracolumbar spine, exaggerated during standing and walking but minimized in supine position. Even though camptocormia is a relatively common condition during the course of Parkinson's disease, there is ongoing controversy concerning its mechanisms. The most widely accepted and yet still disputed one is dystonia. Read More

J Physiol 2017 07 23;595(14):4857-4873. Epub 2017 Jun 23.

Department of Sports Science and Clinical Biomechanics, and SDU Muscle Research Cluster (SMRC), University of Southern Denmark, Odense, Denmark.

Key Points: Muscular contractions performed using a combination of low external loads and partial restriction of limb blood flow appear to induce substantial gains in muscle strength and muscle mass. This exercise regime may initially induce muscular stress and damage; however, the effects of a period of blood flow restricted training on these parameters remain largely unknown. The present study shows that short-term, high-frequency, low-load muscle training performed with partial blood flow restriction does not induce significant muscular damage. Read More

Rev Neurol (Paris) 2017 May 24;173(5):338-344. Epub 2017 Apr 24.

Centre SLA, pole neurosciences, CHU Toulouse-Purpan, 170, avenue de Casselardit, 31059 Toulouse cedex 09, France. Electronic address:

Within lower motor neuron diseases, benign focal amyotrophy is a rare syndrome characterized by insidious neurogenic asymmetric atrophy restricted to upper or lower limbs with a good prognosis over time. Described under several terms, the nosology is probably heterogeneous. In juvenile distal upper-limbs forms, specific MRI signs with in particular a compression of the spinal cord by forward displacement of dura, lead to evoke a mechanical process. Read More

Rev Neurol (Paris) 2017 May 20;173(5):320-325. Epub 2017 Apr 20.

Reference Centre for Neuromuscular Diseases and ALS, University Hospital La Timone, 264 rue Saint Pierre, 13385 Marseille cedex 05, France. Electronic address:

Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Read More

Vet Pathol 2018 01 27;55(1):68-75. Epub 2017 Jan 27.

2 Department of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, USA.

In horses, immune-mediated muscle disorders can arise from an overzealous immune response to concurrent infections or potentially from an inherent immune response to host muscle antigens. Streptococcus equi ss. equi infection or vaccination can result in infarctive purpura hemorrhagica (IPH) in which vascular deposition of IgA-streptococcal M protein complexes produces ischemia and complete focal infarction of skeletal muscle and internal organs. Read More

Am J Pathol 2017 Mar 3;187(3):505-516. Epub 2017 Jan 3.

Mixed Research Unit S1155, INSERM, Paris, France; University Pierre and Marie Curie Paris 06, Sorbonne University, Paris, France; Department of Nephrology and Dialysis, Assistance Publique-Hôpitaux de Paris, Tenon Hospital, Paris, France. Electronic address:

Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). Read More

Muscle Nerve 2017 09 23;56(3):529-533. Epub 2017 Apr 23.

Reference Center for Neuromuscular Diseases, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris (APHP); INSERM U955-Team 10, Université Paris Est-Créteil, 94 Avenue du Marechal de Lattre de Tassigny, 94010, Creteil, France.

Introduction: Patients with renal failure who are being treated with dialysis frequently develop neuromuscular manifestations. Renal failure-associated calciphylaxis, also termed calcific uremic arteriolopathy (CUA), is a life-threatening condition usually observed in patients with end-stage renal disease on chronic dialysis or after renal transplantation.

Methods: We describe a hemodialyzed patient who presented with rapidly progressive unexplained systemic vasculopathy, muscle atrophy, and proximal weakness, that unexpectedly proved to be caused by calciphylaxis. Read More

Brain Pathol 2017 11 15;27(6):781-794. Epub 2017 Feb 15.

Institute of Neuropathology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074 Aachen, Germany.

Alpha-motoneurons and muscle fibres are structurally and functionally interdependent. Both cell types particularly rely on endoplasmic reticulum (ER/SR) functions. Mutations of the ER proteins VAPB, SigR1 and HSP27 lead to hereditary motor neuron diseases (MNDs). Read More

J Med Genet 2017 03 5;54(3):176-185. Epub 2016 Oct 5.

Department of Biology, Concordia University, Montreal, Quebec, Canada.

Background: Triple A syndrome (MIM #231550) is associated with mutations in the gene. However, about 30% of patients with triple A syndrome symptoms but an unresolved diagnosis do not harbour mutations in .

Objective: Search for novel genetic defects in families with a triple A-like phenotype in whom mutations are not detected. Read More

Medicine (Baltimore) 2016 Jul;95(28):e4210

Section of Neuromuscular Disease, Department of Neurology, Chang Gung Memorial Hospital-Linkou Medical Center, Chang Gung University College of Medicine, Taoyuan, Taiwan.

Hirayama disease (HD) is characterized by development of asymmetric forearm muscle atrophy during adolescence with or without focal cervical spinal cord atrophy. The purpose of this study is to assess the correlation of clinical symptoms, disease progression, and electrophysiological findings with cervical spine magnetic resonance imaging (MRI) findings.The medical records, cervical spine MRIs, and electrophysiological findings of 44 HD patients were retrospectively reviewed and analyzed. Read More

Handb Clin Neurol 2016 ;133:467-84

National Institute of Arthritis and Musculoskeletal and Skin Disorders, National Institutes of Health, Bethesda, MD and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

Patients with polymyositis (PM), dermatomyositis (DM), and immune-mediated necrotizing myopathy (IMNM) present with the subacute onset of symmetric proximal muscle weakness, elevated muscle enzymes, myopathic findings on electromyography, and autoantibodies. DM patients are distinguished by their cutaneous manifestations. Characteristic features on muscle biopsy include the invasion of nonnecrotic muscle fibers by T cells in PM, perifascicular atrophy in DM, and myofiber necrosis without prominent inflammation in IMNM. Read More

J Neurosci Rural Pract 2016 Jan-Mar;7(1):164-7

Department of Radiology, Medanta, The Medicity Hospital, Gurgaon, Haryana, India.

Hirayama disease, also known as Sobue disease is a rare nonprogressive spinal muscular atrophy. Here, we report a case series of three young males presenting with atrophy of distal upper limb and Hirayama disease as their clinico-radiological diagnosis. Magnetic resonance imaging (MRI) revealed loss of cervical lordosis with focal areas of lower cervical cord atrophy in a neutral position. Read More

J Clin Invest 2015 Dec 9;125(12):4612-24. Epub 2015 Nov 9.

Mutations of the gene encoding four-and-a-half LIM domain 1 (FHL1) are the causative factor of several X-linked hereditary myopathies that are collectively termed FHL1-related myopathies. These disorders are characterized by severe muscle dysfunction and damage. Here, we have shown that patients with idiopathic inflammatory myopathies (IIMs) develop autoimmunity to FHL1, which is a muscle-specific protein. Read More

Am J Med Genet A 2016 Jan 5;170A(1):148-55. Epub 2015 Oct 5.

Department of Pediatrics, University of Perugia, Perugia, Italy.

Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1. Read More

Muscle Nerve 2016 Apr;53(4):598-607

Laboratory for Urologic Tissue Engineering and Stem Cell Therapy, Division of Urology, University of Zurich, Frauenklinikstrasse 10, CH 8091, Zurich, Switzerland.

Introduction: Magnetic stimulation (MS) has the ability to induce muscle twitch and has long been proposed as a therapeutic modality for skeletal muscle diseases. However, the molecular mechanisms underlying its means of action have not been defined.

Methods: Muscle regeneration after trauma was studied in a standard muscle injury mouse model. Read More

Stroke 2015 Jun 7;46(6):1673-80. Epub 2015 May 7.

From the Laboratoire de Physiologie de l'Exercice, Université de Lyon, Saint Etienne, France (M.M.D., X.D., J.C., D.G.F.); CNRS, UMR 6301 ISTCT, CERVOxy Group, GIP Cyceron, Caen, France (J.T., D.D., M.B., O.T.); CEA, DSV/I2BM, UMR 6301 ISTCT, Caen, France (J.T., D.D., M.B., O.T.); and Université de Caen Basse Normandie, UMR 6301 ISTCT, Caen, France (J.T., D.D., M.B., O.T.).

Background And Purpose: Loss of muscle mass and function is a severe complication in patients with stroke that contributes to promoting physical inactivity and disability. The deleterious consequences of skeletal muscle mass loss underline the necessity to identity the molecular mechanisms involved in skeletal muscle atrophy after cerebral ischemia.

Methods: Transient focal cerebral ischemia (60 minutes) was induced by occlusion of the right middle cerebral artery in C57BL/6J male mice. Read More

Invest Clin 2015 Mar;56(1):33-46

Hashimoto thyroiditis (HT) is an autoimmune disease of the thyroid gland. Patients may present or not a hypothyroid state, and frequently have manifestations of myopathy. The present work was aimed to assess the clinical symptoms and signs of skeletal muscle alterations in HT, describe the muscular pathological changes and relate them to the functional thyroid status and to the autoimmune condition of the patient. Read More

Medicine (Baltimore) 2015 Apr;94(16):e752

From the Department of Rehabilitation Medicine, Hanyang University College of Medicine, Seoul, Korea.

Scapulothoracic bursitis is a rare disease and presents as pain or swelling around the bursa of the scapulothoracic articulation. It has been reported to be related to chronic repetitive mechanical stress of the periscapular tissue, trauma, overuse, and focal muscle weakness. The authors experienced an atypical case of scapulothoracic bursitis with shoulder and periscapular pain after quadriparesis. Read More

FASEB J 2015 Jul 20;29(7):2769-79. Epub 2015 Mar 20.

*Department of Physiology, Medical School, National and Kapodistrian University of Athens, Goudi-Athens, Greece; Department of Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Department of Kinesiology, McGill University, Montreal, Quebec, Canada; Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA; and Department of Applied Physiology and Kinesiology, University of Florida, Gainesville, Florida, USA

Muscle loading is important for maintaining muscle mass; when load is removed, atrophy is inevitable. However, in clinical situations such as critical care myopathy, masticatory muscles do not lose mass. Thus, their properties may be harnessed to preserve mass. Read More

J Clin Neurosci 2015 Jun 9;22(6):951-4. Epub 2015 Mar 9.

Department of Neurosciences, The Alfred Hospital, 55 Commercial Road, Melbourne, VIC 3004, Australia.

This article discusses three patients with likely Hirayama disease. They have no other significant past medical history and no personal or family history of other neurological disorders. Hirayama disease is a form of cervical myelopathy attributed to forward displacement of the posterior cervical dural sac on neck flexion with resultant cord compression and/or venous congestion. Read More

J Neurol 2015 26;262(4):1035-45. Epub 2015 Feb 26.

Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.

Although chronic myopathy has been reported to affect skeletal muscle in sarcoidosis, its clinicopathological features have not been fully elucidated. We characterized the clinical, histopathological, and prognostic features of eleven patients with sarcoidosis manifesting with chronically progressive, generalized myopathy that was confirmed with muscle biopsy. Generalized muscle weakness extending to the four extremities and trunk was the cardinal feature of these cases. Read More

BMC Musculoskelet Disord 2014 Oct 16;15:349. Epub 2014 Oct 16.

Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai 200040, China.

Background: Hirayama disease (HD), amyotrophic lateral sclerosis (ALS) or cervical spondylotic amyotrophy (CSA) may result in atrophy of intrinsic hand and forearm muscles. The incidence of HD is low, and it is rarely encountered in the clinical setting. Consequently, HD is often misdiagnosed as ALS or CSA. Read More

Eur Radiol 2015 Mar 26;25(3):644-51. Epub 2014 Sep 26.

Service de Physiologie Clinique-Explorations Fonctionnelles, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010, Paris, France.

Objectives: The objective is to determine if muscle MRI is useful for assessing neuropathy severity.

Methods: Clinical, MRI and electromyography (EMG) examinations were performed in 17 patients with focal lower limb neuropathies. MRI Short Tau Inversion Recovery (STIR) signal intensity, amyotrophy, and muscle fatty infiltration measured after T1-weighted image acquisition, EMG spontaneous activity (SA), and maximal voluntary contraction (MVC) were graded using semiquantitative scores and quantitative scores for STIR signal intensity and were correlated to the Medical Research Council (MRC) score for testing muscle strength. Read More

Muscle Nerve 2015 Jan 22;51(1):137-40. Epub 2014 Nov 22.

Department of Neurology, San Francisco VA Medical Center, University of California, 505 Parnassus Avenue, Box 0114, M-798, San Francisco, California, 94143, USA.

Introduction: The assumption that multiple sclerosis (MS) is purely a white matter disease has been challenged in recent years by observations of axonal damage and neuronal loss in gray matter of the cortex, subcortex, and spinal cord.

Methods: We report the case of a 71-year-old man with primary progressive MS and longstanding right arm weakness who presented with intermittent right arm pain.

Results: Neurological examination showed atrophy, weakness, and hyporeflexia, and electromyography (EMG) showed acute and chronic partial denervation in multiple segments of the right arm. Read More

Exp Gerontol 2014 Sep 24;57:256-63. Epub 2014 Jun 24.

Department of Neuroscience, Division of Geriatric Medicine, Angers University Hospital, University Memory Clinic of Angers, UPRES EA 4638, University of Angers, UNAM, Angers, France.

Background: It remains unknown which brain regions are involved in the maintenance of gait dynamic stability in older adults, as characterized by a low stride time variability. Expansion of lateral cerebral ventricles is an indirect marker of adjacent brain tissue volume. The purpose of this study was to examine the association between stride time variability and the volume of sub-regions of the lateral cerebral ventricles among older community-dwellers. Read More

Cell Death Dis 2014 Jun 26;5:e1306. Epub 2014 Jun 26.

1] Center for Genetic Medicine Research, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA [2] Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

Dysferlin deficiency compromises the repair of injured muscle, but the underlying cellular mechanism remains elusive. To study this phenomenon, we have developed mouse and human myoblast models for dysferlinopathy. These dysferlinopathic myoblasts undergo normal differentiation but have a deficit in their ability to repair focal injury to their cell membrane. Read More

Neuropathol Appl Neurobiol 2015 Apr;41(3):304-18

Institute of Neuropathology, RWTH Aachen University and JARA Brain Translational Medicine, Aachen, Germany.

Aim: Upon denervation, skeletal muscle fibres initiate complex changes in gene expression. Many of these genes are involved in muscle fibre remodelling and atrophy. Amyotrophic lateral sclerosis (ALS) leads to progressive neurodegeneration and neurogenic muscular atrophy (NMA). Read More

Hum Mol Genet 2014 Sep 23;23(18):4745-57. Epub 2014 Apr 23.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke and Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, MD, USA

While spinal muscular atrophy (SMA) is characterized by motor neuron degeneration, it is unclear whether and how much survival motor neuron (SMN) protein deficiency in muscle contributes to the pathophysiology of the disease. There is increasing evidence from patients and SMA model organisms that SMN deficiency causes intrinsic muscle defects. Here we investigated the role of SMN in muscle development using muscle cell lines and primary myoblasts. Read More

Hum Mutat 2014 Mar 3;35(3):298-302. Epub 2014 Jan 3.

Neuromuscular and Molecular Medicine Unit, Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.

DYNC1H1 encodes the heavy chain of cytoplasmic dynein 1, a motor protein complex implicated in retrograde axonal transport, neuronal migration, and other intracellular motility functions. Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED). Recently, defects of cytoplasmic dynein 1 were also associated with a form of mental retardation and neuronal migration disorders. Read More

J Neurol 2013 Nov 31;260(11):2856-64. Epub 2013 Aug 31.

DZNE German Center for Neurodegenerative Diseases, Gehlsheimer Str. 20, 18147, Rostock, Germany.

Amyotrophic lateral sclerosis (ALS) is characterised by degeneration of upper (UMN) and lower motor neurons (LMN).We aimed to relate clinical variables to cortical thinning of the primary motor cortex (PMC). The PMC was defined as the region of interest in high-resolution structural MRI scans. Read More

Neurosci Res 2013 Sep-Oct;77(1-2):102-9. Epub 2013 Aug 7.

Institute of Neuroscience, Department of Clinical Neurophysiology, Uppsala University, 75185 Uppsala, Sweden. Electronic address:

Myasthenia gravis (MG) patients with antibodies against muscle specific tyrosine kinase (MuSK+) typically present focal fatigue and atrophy of the facial and bulbar muscles, including the masseter muscle, whereas leg muscles often are clinically spared. This study addresses the regulation of the mTOR signaling pathway in the masseter muscle versus the leg muscle tibialis anterior (TA). We analyzed muscle morphology, protein levels of mTOR components as well as atrogenes and mitochondrial markers in these muscles of healthy control mice and mice with different clinical severity grades of MuSK+ experimental autoimmune MG (EAMG). Read More

Amyotroph Lateral Scler Frontotemporal Degener 2013 May;14 Suppl 1:5-18

Department of Neurosciences, University of California, San Diego, La Jolla, California 92093, USA.

Amyotrophic lateral sclerosis (ALS) is characterized phenotypically by progressive weakness and neuropathologically by loss of motor neurons. Phenotypically, there is marked heterogeneity. Typical ALS has mixed upper motor neuron (UMN) and lower motor neuron (LMN) involvement. Read More

J Int Med Res 2013 Jun 29;41(3):907-13. Epub 2013 Apr 29.

Department of Anaesthesia and Pain Medicine, The Catholic University of Korea, College of Medicine, Incheon St Mary's Hospital, Republic of Korea.

Segmental zoster paresis is a rare complication of herpes zoster, characterized by focal motor weakness that does not always present simultaneously with skin lesions. Zoster paresis can be easily confused with other neuromuscular or spinal diseases. This case report describes the case of a 72-year-old woman with herpes zoster and cervical spinal stenosis at the same spinal level, where it was difficult to distinguish segmental zoster paresis from cervical radiculopathy combined with motor neuropathy. Read More

J Child Neurol 2014 Apr 2;29(4):509-13. Epub 2013 Apr 2.

1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.

Hirayama disease is characterized by asymmetrical focal weakness and atrophy of the distal upper limbs with onset in the teens and early 20s. This retrospective study aims to review clinical features of the children (onset before the age of 18 years) with Hirayama disease from mainland of China. Sixty-five children who fulfilled the clinical criteria for Hirayama disease were enrolled. Read More

J Mol Neurosci 2013 Jun 12;50(2):339-44. Epub 2013 Mar 12.

Surgical Pathology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.

Limb girdle muscular dystrophy type 2 G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c. Read More