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hereditary neuropathies with pressure palsies

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https://www.readbyqxmd.com/read/28286897/charcot-marie-tooth-disease-genetic-subtypes-in-the-sardinian-population
#1
Lorefice Lorena, Murru M Rita, Coghe Giancarlo, Fenu Giuseppe, Corongiu Daniela, Frau Jessica, Tranquilli Stefania, Tacconi Paolo, Vannelli Alessandro, Marrosu Giovanni, Mamusa Elena, Cocco Eleonora, Marrosu M Giovanna
Charcot-Marie-Tooth disease (CMT) is characterised by great variability of genetic subtypes. This study aimed to assess the genetic subtypes of CMT disease in the Sardinian population. Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). A total of 1,043 subjects (119 index cases) were evaluated. In CMT1 index cases (69/119; 58%), PMP22 duplication at 17p11.2 was the most frequent genetic diagnosis (60/69; 87%), followed by mutations in the GJB1 gene (5/69; 7...
March 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28221308/intravenous-immunoglobulin-in-treatment-of-hereditary-neuropathy-with-liability-to-pressure-palsy
#2
LETTER
Zhong Hong Liew, Yew Long Lo
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221301/electrodiagnostic-characterization-of-hereditary-neuropathy-with-liability-to-pressure-palsies
#3
Sachiko Takahashi, Marvin Chum, Kurt Kimpinski
OBJECTIVES: The study objective was electrodiagnostic characterization of a large cohort of patients with genetically confirmed hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: A retrospective review was conducted on all patients with HNPP seen at the neuromuscular clinic (London, Canada) from 1977 to 2015. Clinical data obtained included patient characteristics, examination findings, and nerve conduction study results. RESULTS: A total of 46 patients were analyzed...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#4
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28131554/-hereditary-neuropathy-with-liability-to-pressure-palsies-in-childhood-report-of-three-cases
#5
C Bar, F Villéga, C Espil, M Husson, J-M Pedespan, M-F Rouanet
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant neuropathy. It is characterized by recurrent sensory and motor nerve palsies, usually precipitated by minor trauma or compression. Even though rare in childhood, this disorder is probably underdiagnosed given its wide spectrum of clinical symptoms. We review three separate cases of HNPP diagnosed in children with various phenotypes: fluctuating and distal paresthesias disrupting learning at school, cramps related to intensive piano practice, and discrete muscle weakness with no functional complaint...
March 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27927941/a-population-based-epidemiologic-study-of-adult-neuromuscular-disease-in-the-republic-of-ireland
#6
Stela Lefter, Orla Hardiman, Aisling M Ryan
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country. METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimated for December 2013. Multiple case ascertainment sources were utilized. Demographic and clinical information and relevant diagnostic results were registered. RESULTS: A total of 2,641 adults were identified, giving a PR of 62...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#7
Yohei Harada, Araya Puwanant, David N Herrmann
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in both cases, which prompted PMP 22 gene deletion testing...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27799291/niacin-mediated-tace-activation-ameliorates-cmt-neuropathies-with-focal-hypermyelination
#8
Alessandra Bolino, Françoise Piguet, Valeria Alberizzi, Marta Pellegatta, Cristina Rivellini, Marta Guerrero-Valero, Roberta Noseda, Chiara Brombin, Alessandro Nonis, Patrizia D'Adamo, Carla Taveggia, Stefano Carlo Previtali
Charcot-Marie-Tooth (CMT) neuropathies are highly heterogeneous disorders caused by mutations in more than 70 genes, with no available treatment. Thus, it is difficult to envisage a single suitable treatment for all pathogenetic mechanisms. Axonal Neuregulin 1 (Nrg1) type III drives Schwann cell myelination and determines myelin thickness by ErbB2/B3-PI3K-Akt signaling pathway activation. Nrg1 type III is inhibited by the α-secretase Tace, which negatively regulates PNS myelination. We hypothesized that modulation of Nrg1 levels and/or secretase activity may constitute a unifying treatment strategy for CMT neuropathies with focal hypermyelination as it could restore normal levels of myelination...
2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27761228/hereditary-neuropathy-with-liability-to-pressure-palsies-a-single-center-experience-in-southern-brazil
#9
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Cristiane Cavalet, Raquel C Arndt, Lineu Cesar Werneck, Rosana Herminia Scola
The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. Median nerve in the carpal tunnel at the wrist, ulnar nerve in its groove at the elbow, fibular nerve in the head of the fibula at the knee, radial nerve in its groove of the humerus and suprascapular nerve in its notch at the supraspinous fossa were found as focal neuropathies...
September 30, 2016: Neurology International
https://www.readbyqxmd.com/read/27749933/afferent-visual-pathway-affection-in-patients-with-pmp22-deletion-related-hereditary-neuropathy-with-liability-to-pressure-palsies
#10
Alexander U Brandt, Elena Meinert-Bohn, Jan Leo Rinnenthal, Hanna Zimmermann, Janine Mikolajczak, Timm Oberwahrenbrock, Sebastian Papazoglou, Caspar F Pfüller, Johann Schinzel, Björn Tackenberg, Friedemann Paul, Katrin Hahn, Judith Bellmann-Strobl
BACKGROUND: The PMP22 gene encodes a protein integral to peripheral myelin. Its deletion leads to hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 is not expressed in the adult central nervous system, but previous studies suggest a role in CNS myelin development. The objective of this study was to identify potential structural and functional alterations in the afferent visual system in HNPP patients. METHODS: Twenty HNPP patients and 18 matched healthy controls (HC) were recruited in a cross-sectional study...
2016: PloS One
https://www.readbyqxmd.com/read/27583434/tuning-pak-activity-to-rescue-abnormal-myelin-permeability-in-hnpp
#11
Bo Hu, Sezgi Arpag, Xuebao Zhang, Wiebke Möbius, Hauke Werner, Gina Sosinsky, Mark Ellisman, Yang Zhang, Audra Hamilton, Jonathan Chernoff, Jun Li
Schwann cells in the peripheral nervous systems extend their membranes to wrap axons concentrically and form the insulating sheath, called myelin. The spaces between layers of myelin are sealed by myelin junctions. This tight insulation enables rapid conduction of electric impulses (action potentials) through axons. Demyelination (stripping off the insulating sheath) has been widely regarded as one of the most important mechanisms altering the action potential propagation in many neurological diseases. However, the effective nerve conduction is also thought to require a proper myelin seal through myelin junctions such as tight junctions and adherens junctions...
September 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27580410/an-unusual-postoperative-neuropathy-foot-drop-contralateral-to-the-lateral-decubitus-position
#12
Kyle Joseph Morgan, Juan J Figueroa
Postoperative neuropathy is often related to surgical positioning or improper padding during surgery. However, other causes should be considered, particularly when the deficit does not correlate with a positioning error. A case is presented of a 15-year-old girl who experienced postoperative foot drop contralateral to the lateral decubitus position. Further evaluation led to a clinical diagnosis of hereditary neuropathy with liability to pressure palsies that predisposed the patient to the injury. Anesthesiologists should suspect hereditary neuropathy with liability to pressure palsies in patients presenting for multiple nerve decompression surgeries and be vigilant in the perioperative handling of these susceptible individuals...
September 1, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27386852/nonrecurrent-pmp22-rai1-contiguous-gene-deletions-arise-from-replication-based-mechanisms-and-result-in-smith-magenis-syndrome-with-evident-peripheral-neuropathy
#13
Bo Yuan, Juanita Neira, Shen Gu, Tamar Harel, Pengfei Liu, Ignacio Briceño, Sarah H Elsea, Alberto Gómez, Lorraine Potocki, James R Lupski
Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. Nonallelic homologous recombination (NAHR)-mediated recurrent deletions are responsible for the majority of HNPP and SMS cases; the rearrangement products encompass the key dosage-sensitive genes PMP22 and RAI1, respectively, and result in haploinsufficiency for these genes. Less frequently, nonrecurrent genomic rearrangements occur at this locus...
October 2016: Human Genetics
https://www.readbyqxmd.com/read/27241821/laryngeal-and-phrenic-nerve-involvement-in-a-patient-with-hereditary-neuropathy-with-liability-to-pressure-palsies-hnpp
#14
A Cortese, G Piccolo, A Lozza, A Schreiber, I Callegari, A Moglia, E Alfonsi, D Pareyson
Lower cranial and phrenic nerve involvement is exceptional in hereditary neuropathy with liability to pressure palsies (HNPP). Here we report the occurrence of reversible laryngeal and phrenic nerve involvement in a patient with HNPP. The patient recalled several episodes of reversible weakness and numbness of his feet and hands since the age of 30 years. His medical history was uneventful, apart from chronic obstructive pulmonary disease (COPD). At age 44, following severe weight loss, he presented with progressive dysphonia and hoarseness...
July 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27149588/compression-of-root-level-in-a-patient-with-hereditary-neuropathy-with-liability-to-pressure-palsy-diagnosed-by-magnetic-resonance-imaging
#15
Donghwi Park, Ju Seok Ryu, Ki-Jeong Kim
Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by acute, painless, and recurrent mononeuropathies that are secondary to compression or minor trauma. This case is the first to report an intraspinal compression of the radicular nerve by schwannoma in a patient with HNPP. A 66-year-old woman developed left foot drop and paresthesia of the lateral aspects of left distal lower leg. An electromyography showed left L5 radiculopathy and severe peripheral polyneuropathy. A lumbosacral magnetic resonance imaging revealed a radicular nerve in the intradural and extramedullary space being compressed by schwannoma...
September 2016: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/27098694/akt-regulates-axon-wrapping-and-myelin-sheath-thickness-in-the-pns
#16
Enric Domènech-Estévez, Hasna Baloui, Xiaosong Meng, Yanqing Zhang, Katrin Deinhardt, Jeff L Dupree, Steven Einheber, Roman Chrast, James L Salzer
UNLABELLED: The signaling pathways that regulate myelination in the PNS remain poorly understood. Phosphatidylinositol-4,5-bisphosphate 3-kinase 1A, activated in Schwann cells by neuregulin and the extracellular matrix, has an essential role in the early events of myelination. Akt/PKB, a key effector of phosphatidylinositol-4,5-bisphosphate 3-kinase 1A, was previously implicated in CNS, but not PNS myelination. Here we demonstrate that Akt plays a crucial role in axon ensheathment and in the regulation of myelin sheath thickness in the PNS...
April 20, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27084090/fibular-nerve-palsy-after-hip-replacement-not-only-surgeon-responsibility-hereditary-neuropathy-with-liability-to-pressure-palsies-hnpp-a-rare-cause-of-nerve-liability
#17
G Logroscino, F Del Tedesco, C Cambise, D Coraci, F Donati, V Santilli, L Padua
Mononeuropathy after surgery may occur and hereditary neuropathy with liability to pressure palsies is a possible pathological condition related to paresis after hip surgery. We present a case of 66-year-old man presenting severe weakness at inferior limb muscles after hip prosthesis revision. Clinic and electrophysiology showed severe right fibular nerve damage and ultrasound found a marked enlargement of the same nerve, associated with focal enlargements in other nerves. A diagnosis of hereditary neuropathy with liability to pressure palsies was suspected and confirmed by genetic test...
June 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27080157/a-case-of-apoplexy-attack-like-neuropathy-due-to-hereditary-neuropathy-with-liability-to-pressure-palsies-in-a-patient-diagnosed-with-chronic-cerebral-infarction
#18
Akiko Hachisuka, Yasuyuki Matsushima, Kenji Hachisuka, Satoru Saeki
Hereditary neuropathy with liability to pressure palsies is an inherited disease associated with the loss of a copy of the PMP22 gene. The condition leads to mononeuropathy due to compression and easy strangulation during daily life activities, resulting in sudden muscle weakness and sensory disturbance, and displaying symptoms similar to cerebrovascular diseases. We report the case of an 80-year-old man with left paralysis due to chronic cerebral infarction. His medical history indicated remarkable recovery from about 4 months after the onset of left hemiplegia with predominant involvement of the fingers...
June 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/26982985/clinical-and-neurophysiological-features-of-the-hereditary-neuropathy-with-liability-to-pressure-palsy-due-to-the-17p11-2-deletion
#19
Aline Pinheiro Martins de Oliveira, Raquel Campos Pereira, Patrícia Toscano Onofre, Vanessa Daccach Marques, Gilberto Brown de Andrade, Amilton Antunes Barreira, Wilson Marques Junior
The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients...
February 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/26982983/the-broad-clinical-spectrum-of-hereditary-neuropathy-with-liability-to-pressure-palsy-hnpp
#20
EDITORIAL
Osvaldo J M Nascimento
No abstract text is available yet for this article.
February 2016: Arquivos de Neuro-psiquiatria
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