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https://www.readbyqxmd.com/read/27897305/-cervical-ischaemic-neuronopathy-and-cardioembolism-another-cause-of-man-in-the-barrel-syndrome
#1
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
#2
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/27830184/novel-hspb1-mutation-causes-both-motor-neuronopathy-and-distal-myopathy
#3
D J Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, R Horvath, P F Chinnery
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27751652/a-case-of-congenital-spinal-muscular-atrophy-with-pain-due-to-a-mutation-in-trpv4
#4
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...
September 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27666369/tbce-mutations-cause-early-onset-progressive-encephalopathy-with-distal-spinal-muscular-atrophy
#5
Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D'Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi-Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini
Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism and Kenny-Caffey syndrome. Although a missense mutation in Tbce has been associated with progressive distal motor neuronopathy in the pmn/pmn mice, no similar degenerative phenotype has been recognized in humans...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27569547/impaired-presynaptic-high-affinity-choline-transporter-causes-a-congenital-myasthenic-syndrome-with-episodic-apnea
#6
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27561739/spinal-cord-diffusion-tensor-imaging-in-patients-with-sensory-neuronopathy
#7
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...
August 25, 2016: Neuroradiology
https://www.readbyqxmd.com/read/27552391/sensory-neuronopathy-in-spinal-muscular-atrophy-a-case-presentation
#8
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
#9
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...
August 4, 2016: 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
#10
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
#11
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-pns-manifestations-of-chediak-higashi-disease-chd
#12
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 (BMT). 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 (NCT00005917)...
July 18, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27421731/jc-virus-granule-cell-neuronopathy-in-the-setting-of-chronic-lymphopenia-treated-with-recombinant-interleukin-7
#13
David N Soleimani-Meigooni, Katherine E Schwetye, Maria Reyes Angeles, Caroline F Ryschkewitsch, Eugene O Major, Xin Dang, Igor J Koralnik, Robert E Schmidt, David B Clifford, F Matthew Kuhlmann, Robert C Bucelli
JC virus (JCV) is a human polyomavirus that infects the central nervous system (CNS) of immunocompromised patients. JCV granule cell neuronopathy (JCV-GCN) is caused by infection of cerebellar granule cells, causing ataxia. A 77-year-old man with iatrogenic lymphopenia presented with severe ataxia and was diagnosed with JCV-GCN. His ataxia and cerebrospinal fluid (CSF) improved with intravenous immunoglobulin, high-dose intravenous methylprednisolone, mirtazapine, and mefloquine. Interleukin-7 (IL-7) therapy reconstituted his lymphocytes and reduced his CSF JCV load...
July 15, 2016: Journal of Neurovirology
https://www.readbyqxmd.com/read/27356732/progressive-multifocal-leukoencephalopathy-with-bilateral-middle-cerebellar-peduncle-lesions-confirmed-by-repeated-csf-jc-virus-tests-and-coexistence-of-jc-virus-granule-cell-neuronopathy-report-of-a-case
#14
Daisuke Ito, Keizo Yasui, Yasuhiro Hasegawa, Kazuo Nakamichi, Masahisa Katsuno, Akira Takahashi
A 65 year-old woman with small lymphocytic leukemia presented with subacute cerebellar ataxia. Six months after rituximab chemotherapy, a cranial MRI revealed lesions in the bilateral middle cerebellar peduncles. Both cerebrospinal fluid (CSF) JC virus (JCV)-DNA PCR test on three occasions and brain biopsy were negative. CSF tests were repeated. The fourth test performed 6 months after the onset showed positive JCV-DNA, and a definite diagnosis of progressive multifocal leukoencephalopathy (PML) was made. Neuroimaging of cerebellar atrophy was considered to be coexistence of granule cell neuronopathy...
July 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27351300/progressive-ataxia-and-palatal-tremor-think-about-polg-mutations
#15
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/27316242/motor-neuropathy-contributes-to-crouching-in-patients-with-dravet-syndrome
#16
Cyril Gitiaux, Nicole Chemaly, Susana Quijano-Roy, Christine Barnerias, Isabelle Desguerre, Marie Hully, Catherine Chiron, Olivier Dulac, Rima Nabbout
OBJECTIVE: Since SCN1A is expressed in the motor neuron initial segment, we explored whether motor neuron dysfunction could contribute to gait disturbance and orthopedic misalignment in patients with Dravet syndrome due to SCN1A mutations. METHODS: We assessed 12 consecutive patients who presented to our institution between January and March 2013. All of them were older than 2 years and were positive for the SCN1A mutation. We performed nerve conduction velocity studies and needle EMG recordings...
July 19, 2016: Neurology
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
#17
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/27297673/jc-virus-infects-neurons-and-glial-cells-in-the-hippocampus
#18
Christian Wüthrich, Stephanie Batson, Matthew P Anderson, Lon R White, Igor J Koralnik
The human polyomavirus JC (JCV) infects glial cells and is the etiologic agent of the CNS demyelinating disease progressive multifocal leukoencephalopathy. JCV can infect granule cell neurons of the cerebellum, causing JCV granule cell neuronopathy and cortical pyramidal neurons in JCV encephalopathy. Whether JCV also infects neurons in other areas of the CNS is unclear. We determined the prevalence and pattern of JCV infection of the hippocampus in archival samples from 28 patients with known JCV infection of the CNS and 66 control subjects...
June 12, 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27178001/heterogeneity-in-clinical-features-and-disease-severity-in-ataxia-associated-syne1-mutations
#19
Sarah Wiethoff, Joshua Hersheson, Conceicao Bettencourt, Nicholas W Wood, Henry Houlden
The autosomal recessive spinocerebellar ataxias are an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. SYNE1 was originally discovered in 2007 as the causal gene underlying autosomal recessive spinocerebellar ataxia 1, a disease clinically thought to manifest with mainly pure cerebellar ataxia. Since the original report SYNE1 mutations have also been identified in families with motor neuronopathy and arthrogryposis but few families have been screened as the gene is very large at 146 exons in length...
August 2016: Journal of Neurology
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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