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https://www.readbyqxmd.com/read/29154979/small-fiber-neuropathy-diagnosis-causes-and-treatment
#1
Damien Sène
Small fiber neuropathy, which affects the sensory A≏ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. To help achieve this goal, the present review article discusses the clinical presentation of neuropathic pain and paresthesia and/or autonomic dysfunction due to involvement of nerves supplying exocrine glands and smooth muscle; normal findings from standard electrophysiological investigations; most informative diagnostic tests (epidermal nerve fiber density in a skin biopsy, laser-evoked potentials, heat- and cold-detection thresholds, electrochemical skin conductance); main causes, which consist chiefly of metabolic diseases (diabetes mellitus, glucose intolerance), dysimmunity syndromes (Sjögren's syndrome, sarcoidosis, monoclonal gammopathy), and genetic abnormalities (familial amyloidosis due to a transthyretin mutation, Fabry disease, sodium channel diseases); and the available symptomatic and etiological treatments...
November 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29077663/anesthetic-management-of-a-patient-with-de-novo-hereditary-sensory-and-autonomic-neuropathy-type-vii-a-case-report
#2
Lorenzo Rafer, James Mooney
An 18-month-old patient with hereditary sensory and autonomic neuropathy, type VII undergoing general anesthesia for Nissen fundoplication and gastrostomy tube is presented. This is the first reported case of a patient with this particular genetic mutation receiving general anesthesia. We presented the major intraoperative events during the procedure. The anesthetic considerations and implications of caring for a patient with this particular mutation and patients with other variations of hereditary sensory and autonomic neuropathy are also discussed...
October 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29064042/treatment-induced-neuropathy-of-diabetes
#3
REVIEW
Christopher H Gibbons
PURPOSE OF REVIEW: Treatment-induced neuropathy of diabetes (TIND) is an under-recognized iatrogenic painful sensory and autonomic neuropathy. This review highlights the clinical symptoms and signs, raises awareness of the cause, and provides education about prevention of TIND. RECENT FINDINGS: TIND may be triggered by a rapid decline in the blood glucose levels following the use of insulin, oral hypoglycemic medications, or even diet only to control diabetes. This may be seen in up to 10% of patients with diabetic neuropathy and has the potential for significant long-term complications that could be avoided through careful disease management...
October 24, 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/29061384/motoneuron-degeneration-in-the-trigeminal-motor-nucleus-innervating-the-masseter-muscle-in-dystonia-musculorum-mice
#4
M Ibrahim Hossain, Masao Horie, Nozomu Yoshioka, Masayuki Kurose, Kensuke Yamamura, Hirohide Takebayashi
Dystonia musculorum (dt) mice, which have a mutation in the Dystonin (Dst) gene, are used as animal models to investigate the human disease known as hereditary sensory and autonomic neuropathy type VI. Massive neuronal cell death is observed, mainly in the peripheral nervous system (PNS) of dt mice. We and others have recently reported a histopathological feature of these mice that neurofilament (NF) accumulates in various areas of the central nervous system (CNS), including motor pathways. Although dt mice show motor disorder and growth retardation, the causes for these are still unknown...
October 20, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/29042446/clinical-and-metabolic-consequences-of-l-serine-supplementation-in-hereditary-sensory-and-autonomic-neuropathy-type-1c
#5
Mari Auranen, Jussi Toppila, Saranya Suriyanarayanan, Museer A Lone, Anders Paetau, Henna Tyynismaa, Thorsten Hornemann, Emil Ylikallio
Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far untested in HSAN1C caused by variants in the serine palmitoyl transferase subunit 2 (SPTLC2) gene. The aim of this study was to establish whether oral L-serine lowers 1-deoxySL in a patient with HSAN1C, to perform a dose escalation to find the minimal effective dose, and to assess the safety profile and global metabolic effects of the treatment...
October 17, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29029847/the-diagnostic-challenge-of-small-fibre-neuropathy-clinical-presentations-evaluations-and-causes
#6
REVIEW
Astrid J Terkelsen, Páll Karlsson, Giuseppe Lauria, Roy Freeman, Nanna B Finnerup, Troels S Jensen
Small fibre neuropathies are a heterogeneous group of disorders affecting thinly myelinated Aδ-fibres and unmyelinated C-fibres. Although multiple causes of small nerve fibre degeneration have been reported, including via genetic mutations, the cause of small fibre neuropathy remains unknown in up to 50% of cases. The typical clinical presentation of small fibre neuropathy is that of a symmetrical, length-dependent polyneuropathy associated with sensory or autonomic symptoms. More rarely, the clinical presentation is characterised by non-length-dependent, focal, or multifocal symptoms...
November 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28991715/clinical-and-pathological-findings-in-familial-amyloid-polyneuropathy-caused-by-a-transthyretin-e61k-mutation
#7
Tatsufumi Murakami, Hirotake Nishimura, Taiji Nagai, Shoji Hemmi, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada
Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this neuropathy remains unknown, although several mechanisms, including mechanical compression, vessel occlusion, TTR toxicity and Schwann cell dysfunction have been proposed. We describe a patient with late-onset FAP caused by a TTR E61K mutation...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28970182/pathophysiological-profiles-of-sdt-fatty-rats-a-potential-new-diabetic-peripheral-neuropathy-model
#8
Tatsuya Maekawa, Hironobu Tadaki, Tomohiko Sasase, Yu Motohashi, Katsuhiro Miyajima, Takeshi Ohta, Shinichi Kume
INTRODUCTION: To establish an animal model for diabetic peripheral neuropathy (DPN) at an earlier stage, we performed functional and pathophysiological evaluations in Spontaneously Diabetic Torii (SDT) fatty rats before 16weeks of age. METHODS: Male SDT fatty rats were treated with vehicle or phlorizin (100 to 150mg/kg/day) from 5 to 16weeks. Sprague-Dawley (SD) rats were used as age-matched controls. Body weights and biochemical parameters were measured over time...
September 29, 2017: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/28913607/diabetes-and-the-esophagus
#9
REVIEW
Roberto Monreal-Robles, José M Remes-Troche
Chronic hyperglycemia is a well-known cause of gastrointestinal motility disorders extending from the esophagus to the anorectum. Even though little attention has been paid to esophageal disorders in the context of DM, its prevalence is higher compared to gastroparesis. Heartburn, as a typical symptom of gastroesophageal reflux disease (GERD), is the most prevalent symptom and has been found in 25 to 41% of patients with DM. Furthermore, DM has recently been established as possible independent factor for the development of Barrett's esophagus...
December 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28904462/clinical-spectrum-therapeutic-outcomes-and-prognostic-predictors-in-sjogren-s-syndrome-associated-neuropathy
#10
Ajith Sivadasan, Karthik Muthusamy, Bimal Patel, Rohit Ninan Benjamin, A T Prabhakar, Vivek Mathew, Sanjith Aaron, Mathew Alexander
OBJECTIVES: There are limited data regarding long-term follow-up and therapeutic outcomes in Sjogren's syndrome (SS)-associated peripheral neuropathy. In this study, we aim to study the clinical, electrophysiological spectrum and therapeutic responses among the different subtypes of SS-associated neuropathy. The predictors of suboptimal treatment response will be identified. METHODS: The study included a retrospective cohort of patients with SS-associated neuropathy between January 2012 and November 2015...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28892950/riley-day-syndrome-in-a-hispanic-infant-of-non-jewish-ashkenazi-descent
#11
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28864841/diabetic-neuropathy-and-gait-a-review
#12
REVIEW
Uazman Alam, David R Riley, Ravinder S Jugdey, Shazli Azmi, Satyan Rajbhandari, Kristiaan D'Août, Rayaz A Malik
Diabetic peripheral neuropathy (DPN) is a major sequela of diabetes mellitus and may have a detrimental effect on the gait of people with this complication. DPN causes a disruption in the body's sensorimotor system and is believed to affect up to 50% of patients with diabetes mellitus, dependent on the duration of diabetes. It has a major effect on morbidity and mortality. The peripheral nervous system controls the complex series of events in gait through somatic and autonomic functions, careful balancing of eccentric and concentric muscle contractions and a reliance on the sensory information received from the plantar surface...
December 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/28827489/pyridoxine-toxicity-small-fiber-neuropathy-with-dysautonomia-a-case-report
#13
Rae Bacharach, Max Lowden, Aiesha Ahmed
Pyridoxine (vitamin B6) toxicity is a well-known cause of primary sensory, length-dependent, axonal polyneuropathy. Although sensory symptoms predominate, autonomic symptoms have also been reported in some cases. To date, there is no objective evidence of autonomic dysfunction reported in the literature. We present the case of a 41-year-old woman with 2 years of progressive burning pain, numbness, tingling, and weakness in a stocking-glove distribution who was found to have severe pyridoxine toxicity. Concurrent presence of large and small fiber nerve dysfunction was noted in the form of abnormal electromyography/nerve conduction study demonstrating a chronic sensory polyneuropathy and autonomic testing demonstrating abnormal responses to quantitative sweat testing and cardiovagal function testing...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28827487/clinical-and-laboratory-profiles-of-idiopathic-small-fiber-neuropathy-in-children-case-series
#14
Jafar Kafaie, Ali Al Balushi, Minsoo Kim, Alan Pestronk
The role of autoimmune mechanisms in idiopathic small fiber neuropathy (SFN) is not completely understood. Serum IgM binding to trisulfated disaccharide IdoA2S-GlcNS-6S (TS-HDS) and IgG to fibroblast growth factor receptor 3 were associated with sensory motor polyneuropathies and sensory neuronopathy among others. In this retrospective case review, we describe the clinical and laboratory findings of idiopathic SFN in a small cohort of pediatric patients. Eight children were diagnosed with SFN clinically and confirmed by reduced epidermal nerve fiber density...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28807049/oral-manifestations-dental-management-and-a-rare-homozygous-mutation-of-the-prdm12-gene-in-a-boy-with-hereditary-sensory-and-autonomic-neuropathy-type-viii-a-case-report-and-review-of-the-literature
#15
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations...
August 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28798722/autonomic-neuropathy-and-albuminocytologic-dissociation-in-cerebrospinal-fluid-as-the-presenting-features-of-primary-amyloidosis-a-case-report
#16
Jingjing Li, Yi Li, Hongbing Chen, Shihui Xing, Huiyu Feng, Dawei Liu, Dilong Wang, Jinsheng Zeng, Yuhua Fan
OBJECTIVE: Primary amyloidosis is a disease with a poor prognosis and multi-organ involvement. Here, we report the clinical and pathological features of a patient with primary amyloidosis featuring autonomic neuropathy as the initial symptom and albuminocytologic dissociation in the cerebrospinal fluid (CSF). METHODS: The patient was a 60-year-old Chinese male with numbness, orthostatic hypotension, and gastrointestinal symptoms. For diagnosis, we performed an electromyogram (EMG), lumbar puncture, Bence Jones protein urine test, serum electrophoresis blood test, sural nerve and rectal membrane biopsies, transthyretin (TTR) gene sequencing, and bone marrow puncture...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28797631/hspb1-mutations-causing-hereditary-neuropathy-in-humans-disrupt-non-cell-autonomous-protection-of-motor-neurons
#17
Patrick L Heilman, SungWon Song, Carlos J Miranda, Kathrin Meyer, Amit K Srivastava, Amy Knapp, Christopher G Wier, Brian K Kaspar, Stephen J Kolb
Heat shock protein beta-1 (HSPB1), is a ubiquitously expressed, multifunctional protein chaperone. Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F). The functional consequences of HSPB1 mutations associated with hereditary neuropathy are unknown. HSPB1 also displays neuroprotective properties in many neuronal disease models, including the motor neuron disease amyotrophic lateral sclerosis (ALS)...
November 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28780535/clinical-physiological-and-pathological-characterisation-of-the-sensory-predominant-peripheral-neuropathy-in-copper-deficiency
#18
Sean W Taylor, Ruple S Laughlin, Neeraj Kumar, Brent Goodman, Christopher J Klein, Peter J Dyck, P James B Dyck
INTRODUCTION: Myelopathy is considered the most common neurological complication of copper deficiency. Concurrent peripheral neuropathy has been recognised in association with copper deficiency but has not been well characterised. OBJECTIVES: To characterise the clinical, physiological and pathological features of copper-deficient peripheral neuropathy. METHODS: Patients with simultaneous copper deficiency (<0.78 μg/mL) and peripheral neuropathy seen at the Mayo Clinic from 1985 to 2005 were identified...
October 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28766925/posterior-column-ataxia-with-retinitis-pigmentosa-coexisting-with-sensory-autonomic-neuropathy-and-leukemia-due-to-the-homozygous-p-pro221ser-flvcr1-mutation
#19
Marco Castori, Silvia Morlino, Martin Ungelenk, Davide Pareyson, Ettore Salsano, Paola Grammatico, Emanuela Tolosano, Ingo Kurth, Deborah Chiabrando
FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p...
August 2, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28747449/loss-of-cutaneous-large-and-small-fibers-in-naive-and-l-dopa-treated-pd-patients
#20
Maria Nolano, Vincenzo Provitera, Fiore Manganelli, Rosa Iodice, Annamaria Stancanelli, Giuseppe Caporaso, Annamaria Saltalamacchia, Francesca Califano, Bernardo Lanzillo, Marina Picillo, Paolo Barone, Lucio Santoro
OBJECTIVE: To study small and large fiber pathology in drug-naive and l-dopa-treated patients affected by Parkinson disease (PD) in early phases, before the occurrence of neuropathic electrophysiologic abnormalities. METHODS: We enrolled 85 patients with idiopathic PD (male/female 49/36, age 61.3 ± 9.7 years) without electrophysiologic signs of neuropathy, including 48 participants naive to l-dopa treatment. All patients underwent clinical, functional, and morphologic assessment of sensory and autonomic nerves through dedicated questionnaires, quantitative sensory testing, sympathetic skin response, dynamic sweat test, and punch biopsies from glabrous and hairy skin...
August 22, 2017: Neurology
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