keyword
MENU ▼
Read by QxMD icon Read
search

hereditary neuropathies with pressure palsies

keyword
https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#1
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
#2
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...
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27761228/hereditary-neuropathy-with-liability-to-pressure-palsies-a-single-center-experience-in-southern-brazil
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
EDITORIAL
Osvaldo J M Nascimento
No abstract text is available yet for this article.
February 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/26977628/-molecular-genetic-diagnosis-and-clinical-features-of-hereditary-neuropathy-with-liability-to-pressure-palsies-in-belarusian-patients
#15
T V Asadchuk, N V Rumiantseva, I V Naumchik, S A Likhachev, I V Pleshko, L V Shalkevich, I V Jevneronok, J P Kachan
OBJECTIVE: To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counselling. MATERIAL AND METHODS: Patients were selected on the basis of the results of the clinical/genealogical analysis, neurological examination and ENMG study. Genomic DNA was isolated from peripheral blood leukocytes...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/26933540/hereditary-neuropathy-with-liability-to-pressure-palsies
#16
Hyoung Won Choi, Nancy L Kuntz
Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.
November 2015: Pediatric neurology briefs
https://www.readbyqxmd.com/read/26773980/low-back-pain-with-radicular-symptoms-as-a-presentation-of-hereditary-neuropathy-with-liability-to-pressure-palsies-the-diagnostic-challenge-of-an-atypical-presentation
#17
LETTER
https://www.readbyqxmd.com/read/26764297/-phenotypes-of-charcot-marie-tooth-syndrome-and-differential-diagnosis-focused-in-inflammatory-neuropathies
#18
REVIEW
Masahiro Iijima
Charcot-Marie-Tooth disease (CMT), the most frequent form of inherited neuropathy, is a genetically heterogeneous syndrome of the peripheral nervous system with a rather homologous clinical phenotype (slowly progressive distal weakness and muscle atrophy, skeletal deformities, and areflexia in each limb). CMT1 is the autosomal-dominant demyelinating form, and CMT1A (mostly PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressure palsies), CMT1B, or CMT2...
January 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/26761923/phenotype-hnpp-hereditary-neuropathy-with-liability-to-pressure-palsies-induced-by-medical-procedures
#19
Mark Kramer, Amy Ly, Jun Li
The phenotype HNPP (hereditary neuropathy with liability to pressure palsies) is caused by heterozygous deletion of the PMP22 gene. HNPP is clinically characterized by asymmetric focal sensory loss and muscle weakness. Reports of HNPP have been rare. In this article, we report the case of an asymptomatic woman with the HNPP mutation. After undergoing total knee arthroplasty, she developed a footdrop with prolonged recovery. We concluded (a) that the HNPP mutation may carry a high risk for certain surgical procedures not expected to cause neurologic deficits in normal patients and (b) that humans with the HNPP mutation can be asymptomatic...
January 2016: American Journal of Orthopedics
https://www.readbyqxmd.com/read/26663344/are-electrophysiological-criteria-useful-in-distinguishing-childhood-demyelinating-neuropathies
#20
Anna Potulska-Chromik, Barbara Ryniewicz, Karolina Aragon-Gawinska, Dagmara Kabzinska, Andrzej Seroka, Marta Lipowska, Anna M Kaminska, Anna Kostera-Pruszczyk
Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) needs to be differentiated from hereditary neuropathy. We aimed to validate existing CIDP nerve conduction study (NCS) criteria in a group of children with demyelinating neuropathies of chronic or subacute onset. Retrospective analysis of clinical and NCS results in 18 children with CIDP, 7 with hereditary neuropathy with pressure palsy (HNPP), and 24 with Charcot-Marie-Tooth 1a (CMT1a). AAN and EFNS electrodiagnostic CIDP criteria were fulfilled in 17 of 18 CIDP, 3 of 7 HNPP, and 23 of 24 CMT1a patients...
March 2016: Journal of the Peripheral Nervous System: JPNS
keyword
keyword
100858
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"