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hereditary neuropathies with pressure palsies

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https://www.readbyqxmd.com/read/29137918/spinobulbar-muscular-atrophy-combined-with-atypical-hereditary-neuropathy-with-liability-to-pressure-palsy
#1
Kyomin Choi, So Hyun Ahn, Seol-Hee Baek, Jun-Soon Kim, Seok-Jin Choi, Je-Young Shin, Sung-Min Kim, Yoon-Ho Hong, Jung-Joon Sung
Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent neuropathies at common entrapment sites. We report a case of co-existence of SBMA and atypical HNPP with genetic confirmation of CAG expansion in the androgen receptor (AR) gene and deletion of the peripheral myelin protein 22 (PMP22) gene. A 62-year-old man presented with progressive muscle weakness, fasciculations in upper and lower limbs and dysesthesia predominantly in the distal regions...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29127354/clinical-and-molecular-characterization-of-pmp22-point-mutations-in-taiwanese-patients-with-inherited-neuropathy
#2
Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee
Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan, 53 patients with molecularly unassigned demyelinating CMT and 52 patients with HNPP-like neuropathy of unknown genetic causes were screened for PMP22 mutations by Sanger sequencing. Three point mutations were identified in four patients with demyelinating CMT, including c...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29108667/clinical-electrophysiological-genetic-and-imaging-features-of-six-chinese-han-patients-with-hereditary-neuropathy-with-liability-to-pressure-palsies-hnpp
#3
Bin Chen, Songtao Niu, Xingao Wang, Wei Li, Na Chen, Zaiqiang Zhang
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy caused by mutations in the peripheral myelin protein 22 (PMP22) gene. This study summarizes the clinical, electrophysiological, genetic, and imaging features of six unrelated Chinese Han patients with HNPP. Age of onset was within the second decade in five patients, and 46 years of age in one patient. Weakness or numbness in a unilateral lower extremity was the most common symptom in 5 patients, and bilateral sensorineural hearing loss was also detected in one patient...
November 3, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29079893/characterisation-of-pain-in-people-with-hereditary-neuropathy-with-liability-to-pressure-palsy
#4
Darren Beales, Robyn Fary, Cameron Little, Shruti Nambiar, Hakon Sveinall, Yen Leng Yee, Brigitte Tampin, Tim Mitchell
Hereditary neuropathy with liability to pressure palsy (HNPP) has historically been considered a pain-free condition, though some people with HNPP also complain of pain. This study characterised persistent pain in people with HNPP. Participants provided cross-sectional demographic data, information on the presence of neurological and persistent pain symptoms, and the degree to which these interfered with daily life. The painDETECT and Central Sensitization Inventory questionnaires were used to indicate potential neuropathic, central sensitisation and musculoskeletal (nociceptive) pain mechanisms...
October 27, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29078790/hereditary-neuropathy-with-liability-to-pressure-palsy-hnpp-report-of-a-family-with-a-new-point-mutation-in-pmp22-gene
#5
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. CASE PRESENTATION: We report on a familial case harbouring a new point mutation in the PMP22 gene...
October 27, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28948078/muscle-training-induced-bilateral-brachial-plexopathy-in-an-adolescent-with-sporadic-hereditary-neuropathy-with-liability-to-pressure-palsies
#6
Minori Kodaira, Satoshi Kodama, Yui Kamijo, Tomoki Kaneko, Yoshiki Sekijima
There have been few studies regarding physical training-induced peripheral nerve dysfunction in patients with hereditary neuropathy with liability to pressure palsies (HNPP), with the exception of soldiers that trained intensively. Here, we report a 15-year-old boy without family history of HNPP who developed bilateral painless brachial plexopathy following short-term barbell and plank training during a school baseball club activity. Muscle training-induced painless brachial plexopathy could be an initial symptom and may be underdiagnosed in adolescents with sporadic HNPP...
September 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28912683/nano-scale-biophysical-and-structural-investigations-on-intact-and-neuropathic-nerve-fibers-by-simultaneous-combination-of-atomic-force-and-confocal-microscopy
#7
Gonzalo Rosso, Ivan Liashkovich, Peter Young, Victor Shahin
The links between neuropathies of the peripheral nervous system (PNS), including Charcot-Marie-Tooth1A and hereditary neuropathy with liability to pressure palsies, and impaired biomechanical and structural integrity of PNS nerves remain poorly understood despite the medical urgency. Here, we present a protocol describing simultaneous structural and biomechanical integrity investigations on isolated nerve fibers, the building blocks of nerves. Nerve fibers are prepared from nerves harvested from wild-type and exemplary PNS neuropathy mouse models...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#8
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28802056/different-nerve-ultrasound-patterns-in-charcot-marie-tooth-types-and-hereditary-neuropathy-with-liability-to-pressure-palsies
#9
Luca Padua, Daniele Coraci, Marta Lucchetta, Ilaria Paolasso, Costanza Pazzaglia, Giuseppe Granata, Mario Cacciavillani, Marco Luigetti, Fiore Manganelli, Chiara Pisciotta, Giuseppe Piscosquito, Davide Pareyson, Chiara Briani
INTRODUCTION: Nerve ultrasound in Charcot-Marie-Tooth (CMT) disease has focused mostly on the upper limbs. We performed an evaluation of a large cohort of CMT patients in which we sonographically characterized nerve abnormalities in different disease types, ages, and nerves. METHODS: Seventy patients affected by different CMT types and hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated, assessing median, ulnar, fibular, tibial, and sural nerves bilaterally...
August 12, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28652523/a-case-of-hereditary-neuropathy-with-liability-to-pressure-palsies-due-to-push-up-exercise
#10
Takumi Nakamura, Takeshi Kawarabayashi, Yusuke Seino, Mikio Shoji
A 17-year-old man with no familial history developed motor and sensory disturbance of the left upper limb a few days after starting push-up exercise. Neurological examination revealed broad weakness and radial sensory disturbance of the left upper limb and magnetic resonance neurography showed laterality of brachial plexus intensity signals. Therefore, we suspected left brachial plexopathy. However, a nerve conduction study showed a broad disturbance that could not be explained by only brachial plexopathy. Genetic tests revealed a diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP)...
July 29, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28538254/acute-demyelinating-polyneuropathy-as-presentation-of-hereditary-neuropathy-with-liability-to-pressure-palsies-in-a-patient-who-exercised-regularly-in-the-army
#11
Malathi Perugula, Gulshan Uppal, Miguel Chuquilin
Acute generalized neuropathy as the presenting manifestation of hereditary neuropathy with liability to pressure palsies (HNPP) is rare. We report a 19-year-old Army recruit who exercised regularly for 9 months and presented with 2 weeks of numbness, tingling, and weakness in both upper and lower extremities, starting 2 weeks after influenza vaccination and 1 day after vigorous exercise. Based on acute onset, clinical examination and electrophysiological findings, Guillain-Barre syndrome was diagnosed, and intravenous immunoglobulin was administered with minimal improvement...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#12
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28407266/hereditary-neuropathy-with-liability-to-pressure-palsy-in-patients-under-30-years-old-neurophysiological-data-and-proposed-electrodiagnostic-criteria
#13
Florence Robert-Varvat, Guillemette Jousserand, Françoise Bouhour, Christophe Vial, Pascal Cintas, Andoni Echaniz-Laguna, Emilien Delmont, Pierre Clavelou, Guy Chauplannaz, Laurent Jomir, Yann Pereon, Sarah Leonard-Louis, Veronique Manel, Jean-Christophe Antoine, Arnaud Lacour, Jean-Philippe Camdessanche
INTRODUCTION: In young patients with mononeuropathy who lack family history and precipitating factors, hereditary neuropathy with liability to pressure palsy (HNPP) may be a possibility. Our objective is to propose neurophysiological criteria for HNPP in patients <30 years of age. METHODS: We conducted a national multicenter retrospective clinical and neurophysiological study in patients under 30 with genetically confirmed HNPP. RESULTS: All of the 51 patients included in the study had at least 1 demyelinating pattern in 2 asymptomatic nerves, and 3 abnormalities were found in almost 90%, including slowed motor nerve conduction velocity across the elbow in at least 1 ulnar nerve (97...
April 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28286897/charcot-marie-tooth-disease-genetic-subtypes-in-the-sardinian-population
#14
Lorena Lorefice, Maria Rita Murru, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu, Jessica Frau, Stefania Tranquilli, Paolo Tacconi, Alessandro Vannelli, Giovanni Marrosu, Elena Mamusa, Eleonora Cocco, Maria Giovanna Marrosu
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...
June 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28221308/intravenous-immunoglobulin-in-treatment-of-hereditary-neuropathy-with-liability-to-pressure-palsy
#15
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
#16
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
#17
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
#18
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
#19
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...
January 17, 2017: Neurology
https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#20
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
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