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https://www.readbyqxmd.com/read/28682959/paraneoplastic-neuropathies
#1
Jean-Christophe Antoine, Jean-Philippe Camdessanché
PURPOSE OF REVIEW: To review recent advances in paraneoplastic neuropathies with emphasis on their definition, different forms and therapeutic development. RECENT FINDINGS: A strict definition of definite paraneoplastic neuropathies is necessary to avoid confusion. With carcinoma, seronegative sensory neuronopathies and neuronopathies and anti-Hu and anti-CV2/Contactin Response Mediator Protein 5 antibodies are the most frequent. With lymphomas, most neuropathies occur with monoclonal gammopathy including AL amyloidosis, Polyneuropathy-Organomegaly-Endocrinopathy-M component-Skin changes (POEMS) syndrome, type I cryoglobulinemia and antimyelin-associated glycoprotein (MAG) neuropathies and Waldenström's disease...
July 5, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28473226/kennedy-disease-x-linked-recessive-bulbospinal-neuronopathy-a-comprehensive-review-from-pathophysiology-to-therapy
#2
REVIEW
G Querin, G Sorarù, P-F Pradat
Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by expansion of a CAG repeat sequence in exon 1 of the androgen receptor gene (AR) encoding a polyglutamine (polyQ) tract. The polyQ-expanded AR accumulates in nuclei, and initiates degeneration and loss of motor neurons and dorsal root ganglia. While the disease has long been considered a pure lower motor neuron disease, recently, the presence of major hyper-creatine-kinase (CK)-emia and myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide range of clinical manifestations...
May 1, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28434507/motor-neuropathies-and-lower-motor-neuron-syndromes
#3
REVIEW
A Verschueren
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. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available...
May 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#4
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28294987/sensory-neuronopathy-revealing-severe-vitamin-b12-deficiency-in-a-patient-with-anorexia-nervosa-an-often-forgotten-reversible-cause
#5
Jérôme Franques, Laurent Chiche, Stéphane Mathis
Vitamin B12 (B12) deficiency is known to be associated with various neurological manifestations. Although central manifestations such as dementia or subacute combined degeneration are the most classic, neurological manifestations also include sensory neuropathies. However, B12 deficiency is still rarely integrated as a potential cause of sensory neuronopathy. Moreover, as many medical conditions can falsely normalize serum B12 levels even in the context of a real B12 deficiency, some cases may easily remain underdiagnosed...
March 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28286483/long-term-effects-pathophysiological-mechanisms-and-risk-factors-of-chemotherapy-induced-peripheral-neuropathies-a-comprehensive-literature-review
#6
REVIEW
Nicolas Kerckhove, Aurore Collin, Sakahlé Condé, Carine Chaleteix, Denis Pezet, David Balayssac
Neurotoxic anticancer drugs, such as platinum-based anticancer drugs, taxanes, vinca alkaloids, and proteasome/angiogenesis inhibitors are responsible for chemotherapy-induced peripheral neuropathy (CIPN). The health consequences of CIPN remain worrying as it is associated with several comorbidities and affects a specific population of patients already impacted by cancer, a strong driver for declines in older adults. The purpose of this review is to present a comprehensive overview of the long-term effects of CIPN in cancer patients and survivors...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28226084/derek-denny-brown-the-man-behind-the-ganglia
#7
Alberto R M Martinez, Ingrid Faber, Carlos Roberto Martins, Raphael F Casseb, Anamarli Nucci, Marcondes C França, Hélio A G Teive
The authors present an historical review about the main contributions of Professor Derek Denny-Brown to neurology. Some of his achievements include the first description of sensory neuronopathies, and some of the essential textbooks on the function and anatomy of the basal ganglia. In 2016, on the 35th anniversary of his death, modern neurologists are still strongly influenced by his legacy.
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28216073/autoimmune-neuropathies-associated-to-rheumatic-diseases
#8
REVIEW
Alberto R M Martinez, Ingrid Faber, Anamarli Nucci, Simone Appenzeller, Marcondes C França
Systemic manifestations are frequent in autoimmune rheumatic diseases and include peripheral nervous system damage. Neuron cell body, axons and myelin sheath may all be affected in this context. This involvement results in severe and sometimes disabling symptoms. Sensory, motor and autonomic features may be present in different patterns that emerge as peculiar clinical pictures. Prompt recognition of these neuropathies is pivotal to guide treatment and reduce the risks of long term disability. In this review, we aim to describe the main immune-mediated neuropathies associated to rheumatic diseases: sensory neuronopathies, multiple mononeuropathies and chronic inflammatory demyelinating polyradiculoneuropathy, with an emphasis on clinical features and therapeutic options...
April 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/27897305/-cervical-ischaemic-neuronopathy-and-cardioembolism-another-cause-of-man-in-the-barrel-syndrome
#9
H Gonzalez-Usigli, A Gandarilla, J J Garcia, J Serrato, N Estrada
INTRODUCTION: Spinal infarction accounts for 1% of all strokes. Cardioembolism is a rare cause. Common areas of ischemic spinal damage are watershed in the dorsal or lumbar regions; however cervical spinal cord infarction has been reported previously. CASE REPORT: We present a new case of a man-in-the-barrel syndrome produced by cardiac embolization associated with atrial fibrillation during an acute myocardial infarction, which caused cervical ischemic neuronopathy (infarction of the anterior horn)...
December 16, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/27866728/what-is-new-in-2015-in-dysimmune-neuropathies
#10
REVIEW
T Kuntzer
This review discusses and summarizes the concept of nodopathies, the diagnostic features, investigations, pathophysiology, and treatment options of chronic inflammatory demyelinating polyradiculoneuropathy, and gives updates on other inflammatory and dysimmune neuropathies such as Guillain-Barré syndrome, sensory neuronopathies, small-fiber-predominant ganglionitis, POEMS syndrome, neuropathies associated with IgM monoclonal gammopathy and multifocal motor neuropathy. This field of research has contributed to the antigenic characterization of the peripheral motor and sensory functional systems, as well as helping to define immune neuropathic syndromes with widely different clinical presentation, prognosis and response to therapy...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27751652/a-case-of-congenital-spinal-muscular-atrophy-with-pain-due-to-a-mutation-in-trpv4
#11
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
December 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27561739/spinal-cord-diffusion-tensor-imaging-in-patients-with-sensory-neuronopathy
#12
Raphael Fernandes Casseb, Jean Levi Ribeiro de Paiva, Lucas Melo Teixeira Branco, Alberto Rolim Muro Martinez, Fabiano Reis, José Carlos de Lima-Junior, Gabriela Castellano, Marcondes Cavalcante França Junior
INTRODUCTION: We investigated whether MR diffusion tensor imaging (DTI) analysis of the cervical spinal cord could aid the (differential) diagnosis of sensory neuronopathies, an underdiagnosed group of diseases of the peripheral nervous system. METHODS: We obtained spinal cord DTI and T2WI at 3 T from 28 patients, 14 diabetic subjects with sensory-motor distal polyneuropathy, and 20 healthy controls. We quantified DTI-based parameters and looked at the hyperintense T2W signal at the spinal cord posterior columns...
November 2016: Neuroradiology
https://www.readbyqxmd.com/read/27552391/sensory-neuronopathy-in-spinal-muscular-atrophy-a-case-presentation
#13
LETTER
Derrece Reid, Yuliya Zinger, Divisha Raheja
No abstract text is available yet for this article.
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27488538/sensory-neuropathy-in-progressive-motor-neuronopathy-pmn-mice-is-associated-with-defects-in-microtubule-polymerization-and-axonal-transport
#14
Michael K Schäfer, Sarah Bellouze, Arnaud Jacquier, Sébastien Schaller, Laurence Richard, Stéphane Mathis, Jean-Michel Vallat, Georg Haase
Motor neuron diseases such as amyotrophic lateral sclerosis (ALS) are now recognized as multi-system disorders also involving various non-motor neuronal cell types. The precise extent and mechanistic basis of non-motor neuron damage in human ALS and ALS animal models remain however unclear. To address this, we here studied progressive motor neuronopathy (pmn) mice carrying a missense loss-of-function mutation in tubulin binding cofactor E (TBCE). These mice manifest a particularly aggressive form of motor axon dying back and display a microtubule loss, similar to that induced by human ALS-linked TUBA4A mutations...
July 2017: Brain Pathology
https://www.readbyqxmd.com/read/27475316/a-case-of-encephalomyeloradiculopathy-in-a-non-carcinomatous-patient-associated-with-p-q-type-voltage-gated-calcium-channel-antibodies
#15
Divpreet Kaur, Divisha Raheja
The presence of P/Q type voltage gated calcium channel (VGCC) antibodies has been strongly correlated with Lambert Eaton Syndrome (LES), present in 90% of non-immunocompromised patients with LES. However, there have been case reports which have shown its association between paraneoplastic syndrome affecting both central nervous system and the peripheral nervous system causing encephalomyelitis and sensory neuronopathy/neuropathy. We present a case of a young man, who presented with encephalomyelitis, and was further noted to have superimposed cervical polyradiculopathy associated with P/Q type VGCC antibodies...
November 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27473302/facial-onset-sensory-and-motor-neuronopathy
#16
REVIEW
Qian Zheng, Lan Chu, Liming Tan, Hainan Zhang
Facial onset sensory and motor neuronopathy (FOSMN) is a recently defined slowly progressive motor neuron disorder. It is characterized by facial onset sensory abnormalities which may spread to the scalp, neck, upper trunk and extremities, followed by lower motor neuron deficits. Bulbar symptoms, such as dysarthria and dysphagia, muscle weakness, cramps and fasciculations, can present later in the course of the disease. We search the PubMed database for articles published in English from 2006 to 2016 using the term of "Facial onset sensory and motor neuronopathy"...
December 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27429304/peripheral-nervous-system-manifestations-of-chediak-higashi-disease
#17
Tanya J Lehky, Catherine Groden, Barbara Lear, Camilo Toro, Wendy J Introne
INTRODUCTION: Chediak-Higashi disease (CHD) is a rare autosomal recessive disorder with hematologic, infectious, pigmentary, and neurologic manifestations. Classic CHD (C-CHD) presents in early childhood with severe infectious or hematologic complications unless treated with bone marrow transplantation. Atypical CHD (A-CHD) has less severe hematologic and infectious manifestations. Both C-CHD and A-CHD develop neurological problems. METHODS: Eighteen patients with CHD (9 A-CHD and 9 C-CHD) underwent electrodiagnostic studies as part of a natural history study (NCT 00005917)...
March 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27351300/progressive-ataxia-and-palatal-tremor-think-about-polg-mutations
#18
Marie Mongin, Cécile Delorme, Timothée Lenglet, Claude Jardel, Catherine Vignal, Emmanuel Roze
BACKGROUND: Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN: PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE: POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present.
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27301520/brachial-diparesis-due-to-motor-neuronopathy-as-one-of-the-predominant-presenting-signs-of-occult-small-cell-lung-carcinoma
#19
Sefik Evren Erdener, Atay Vural, Cagri Mesut Temucin, Sevim Erdem Ozdamar, Gulay Nurlu, Kubilay Varli, Nese Dericioglu
Sensory neuronopathy is a well-established presentation in paraneoplastic neurological syndromes that is mostly associated with small cell lung cancer and anti-Hu antibodies. Motor neuronopathy, on the other hand, is an extremely rare observation in this syndrome. A 56-year-old man presented with asymmetric brachial diparesis and sensory ataxia. Electrophysiological studies revealed sensory ganglionopathy and progressive anterior horn degeneration in cervical segments. Small cell lung carcinoma with associated anti-Hu antibodies was later diagnosed...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27175675/sj%C3%A3-gren-sensory-neuronopathy-sj%C3%A3-gren-ganglionopathy-long-term-outcome-and-treatment-response-in-a-series-of-13-cases
#20
P Ricardo Pereira, Karine Viala, Thierry Maisonobe, Julien Haroche, Alexis Mathian, Miguel Hié, Zahir Amoura, Fleur Cohen Aubart
Primary Sjögren syndrome (SS) is an autoimmune disease mainly affecting the exocrine glands causing a sicca syndrome. Neurological manifestations are rarely seen in SS although they are debilitating. Peripheral neuropathies namely sensory axonal neuropathy and painful small fiber neuropathy are the most frequent neurological manifestations. Sensory neuronopathy (SN) is less frequently seen although leading to more severe handicap.The aim of the study was to analyze the clinical presentation and treatment efficacy in a series of SS-related SN...
May 2016: Medicine (Baltimore)
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