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Sensorimotor polyneuropathy

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https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#1
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
November 9, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27869457/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy-adca-dn-associated-with-progressive-cognitive-and-behavioral-deterioration
#2
Lisa A S Walker, Pierre Bourque, Andra M Smith, Jodi Warman Chardon
Objective: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN. Method: Three members of a kindred with ADCA-DN underwent comprehensive neuropsychological testing and neuroimaging...
November 21, 2016: Neuropsychology
https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#3
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/27859927/clinical-features-of-familial-amyloid-polyneuropathy-carrying-transthyretin-mutations-in-four-chinese-kindreds
#4
Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p...
November 17, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27854094/cubital-tunnel-syndrome-caused-by-ulnar-nerve-schwannoma-in-a-patient-with-diabetic-sensorimotor-polyneuropathy
#5
Meng-Ta Liu, Jiunn-Tay Lee, Chih-Hsin Wang, Yu-Chieh Lin, Chung-Hsing Chou
PURPOSE: An uncommon ulnar nerve schwannoma should not be neglected in a diabetic patient with cubital tunnel syndrome, the second most common cause of entrapment neuropathy. CASE REPORT: A 61-year-old woman with a past history of type 2 diabetes mellitus complicated with sensorimotor polyneuropathy presented with progressive numbness and weakness of the left ring and little fingers for one year. A provisional diagnosis of cubital tunnel syndrome was made according to physical examination and electrophysiological studies...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27848118/minor-salivary-gland-biopsy-for-the-diagnosis-of-familial-amyloid-polyneuropathy
#6
Fernanda de Paula Eduardo, Letícia de Mello Bezinelli, Danielle Lima Corrêa de Carvalho, Bianca Della-Guardia, Marcio Dias de Almeida, Lidiane Vieira Marins, Luciana Corrêa
The diagnosis of Val30Met familial amyloidotic polyneuropathy (FAP) is based on genetic tests, clinical manifestations, familial history and biopsy of peripheral tissues (e.g. rectum, abdominal fat pad, sural nerve, and minor salivary gland) to confirm the presence of amyloid deposits. The aim of this study was to determine the frequency of amyloid deposits in minor salivary glands biopsied from FAP patients and to investigate whether an association exists between the presence of these deposits and clinical features...
November 15, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27821089/posterior-reversible-encephalopathy-as-the-first-manifestation-of-bickerstaff-s-brainstem-encephalitis
#7
Pei-Ru Chen, Shih-Pin Chen
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) has been associated with Guillain-Barre syndrome in rare cases. Here we report a patient in whom PRES was the presenting manifestation of Bickerstaff's brainstem encephalitis. CASE PRESENTATION: A 75-year-old woman presented with acute onset of hypertension, headache, blurred vision, and left eyelid drooping. Magnetic resonance imaging of the brain showed characteristic PRES lesions involving the parietal and occipital lobes bilaterally...
November 8, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27813425/emerging-drugs-for-diabetic-peripheral-neuropathy-and-neuropathic-pain
#8
Nikolaos Papanas, Dan Ziegler
Diabetic sensorimotor polyneuropathy (DSPN) is a common complication of diabetes. Areas covered: In this review, the authors discuss the emerging drugs for DSPN, which aim either at improving alleviation of neuropathic pain or addressing the putative mechanisms underlying diabetic neuropathy. Expert Opinion: Current treatment does not address the sensory deficits and pathogenesis underlying DSPN, so there is an unmet need for treatment options targeting the natural history of the condition. Some of these pathogenetic therapies have demonstrated clinically relevant improvements in neuropathic endpoints in recent randomised controlled trials...
November 18, 2016: Expert Opinion on Emerging Drugs
https://www.readbyqxmd.com/read/27776522/inositol-1-4-5-trisphosphate-receptor-type-1-autoantibodies-in-paraneoplastic-and-non-paraneoplastic-peripheral-neuropathy
#9
Sven Jarius, Marius Ringelstein, Jürgen Haas, Irina I Serysheva, Lars Komorowski, Kai Fechner, Klaus-Peter Wandinger, Philipp Albrecht, Harald Hefter, Andreas Moser, Eva Neuen-Jacob, Hans-Peter Hartung, Brigitte Wildemann, Orhan Aktas
BACKGROUND: Recently, we described a novel autoantibody, anti-Sj/ITPR1-IgG, that targets the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in patients with cerebellar ataxia. However, ITPR1 is expressed not only by Purkinje cells but also in the anterior horn of the spinal cord, in the substantia gelatinosa and in the motor, sensory (including the dorsal root ganglia) and autonomic peripheral nervous system, suggesting that the clinical spectrum associated with autoimmunity to ITPR1 may be broader than initially thought...
October 24, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27676758/assessment-of-the-rocker-sole-shoes-on-postural-stability-in-patients-with-type-2-diabetes-and-distal-sensorimotor-polyneuropathy
#10
Marie Lumeau, Mathieu Lempereur, Emmanuel Sonnet, Olivier Remy Neris
OBJECTIVE: Distal sensorimotor polyneuropathy (DPN) is a leading risk factor of developing ulcer, including increased pressures at the forefoot. The rocker sole shoes are prescribed to decrease pressures but could induce instability [1]. The aim of this study was to compare the postural stability between normal shoes (NS) and rocker sole shoes (RSS) in patients with type 2 diabetes and DPN. MATERIAL/PATIENTS AND METHODS: In this preliminary, randomized, controlled study, NS and RSS were compared during static standing and gait...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27673112/poster-359-sensorimotor-polyneuropathy-attributed-to-heroin-exposure-in-young-female-a-case-report
#11
Katherine Power, Steven A Sparr
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27668106/atypical-features-in-a-large-turkish-family-affected-with-friedreich-ataxia
#12
Semiha Kurt, Betul Cevik, Durdane Aksoy, E Irmak Sahbaz, Aslı Gundogdu Eken, A Nazli Basak
Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27666897/sle-neuropathy-anything-new
#13
Vikram A Londhey
SLE (systemic lupus erythematosus) is a multisystem autoimmune disorder of unknown aetiology which can present with myriad clinical presentation. The neurological manifestations of SLE consist of central nervous system (CNS) and peripheral nervous system manifestations (PNS). The CNS manifestations are aseptic meningitis, cerebrovascular accidents (stroke), demyelinating disorders, headache, involuntary movements like chorea, myelopathy, acute confusional states, cognitive dysfunction, mood disorder, seizures, psychosis and cranial nerve palsies...
December 2015: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27660697/in-vivo-corneal-confocal-microscopy-in-diabetes-where-we-are-and-where-we-can-get
#14
REVIEW
Ernesto Maddaloni, Francesco Sabatino
In vivo corneal confocal microscopy (IVCCM) is a novel, reproducible, easy and noninvasive technique that allows the study of the different layers of the cornea at a cellular level. As cornea is the most innervated organ of human body, several studies investigated the use of corneal confocal microscopy to detect diabetic neuropathies, which are invalidating and deadly complications of diabetes mellitus. Corneal nerve innervation has been shown impaired in subjects with diabetes and a close association between damages of peripheral nerves due to the diabetes and alterations in corneal sub-basal nerve plexus detected by IVCCM has been widely demonstrated...
September 15, 2016: World Journal of Diabetes
https://www.readbyqxmd.com/read/27630082/poems-syndrome-a-rare-case-report
#15
Benedetta Miglino, Michele Viana, Rossana Tiberio, Paolo Boggio, Guido Valente, Gionata Strigaro, Enrico Colombo
The authors report a case of sensorimotor polyneuropathy, diffuse hemangiomas and monoclonal gammopathy. Besides weight loss, there were diabetes mellitus and severe hypothyroidism. These alterations were consistent with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes) syndrome, which is a rare systemic disease with monoclonal proliferation of plasmacytes and slow progression. Because of its rarity, the incidence of this disease is still unknown.
September 15, 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/27583304/mme-mutation-in-dominant-spinocerebellar-ataxia-with-neuropathy-sca43
#16
Chantal Depondt, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis, Massimo Pandolfo
OBJECTIVE: To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. METHODS: We collected DNA samples of 28 family members, including 7 living affected individuals, whose clinical records were reviewed by a neurologist experienced in ataxia. We combined linkage data of 21 family members with whole exome sequencing in 2 affected individuals to identify shared heterozygous variants mapping to potentially linked regions...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27570393/idiopathic-cd4-lymphocytopenia-with-sensorimotor-polyneuropathy
#17
Vinod Puri, Ashish Kumar Duggal, Neera Chaudhry
A, 21-years-old, male, presented with acute onset, gradually progressive, predominantly distal, symmetrical weakness of both upper and lower limbs with arreflexia. He had impaired sensations in glove and stocking distribution with distal gradient. He was found to have absolute CD4 + cell count of 188 cells/μL, absolute CD8 cell count, 532 cells/μL and CD4: CD8 ratio of 0.35. Electrophysiology revealed reduced to absent CMAP amplitude as well as SNAPs in various nerves of upper and lower limbs, along with normal conduction velocity and normal F wave latencies...
July 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27570382/vasculitic-neuropathy-in-elderly-a-study-from-a-tertiary-care-university-hospital-in-south-india
#18
Anish Lawrence, Madhu Nagappa, Anita Mahadevan, Arun B Taly
OBJECTIVE: To describe clinical, electrophysiological, and histopathological profile of vasculitic neuropathy in elderly subjects aged 65 years or more. DESIGN: Retrospective chart review. SETTING: Departments of Neurology and Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India. PATIENTS AND METHODS: Elderly subjects, diagnosed vasculitic neuropathy by nerve biopsy over one decade, were studied...
July 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27567409/longitudinal-patterns-of-thalidomide-neuropathy-in-children-and-adolescents
#19
Wendy K M Liew, Christina A Pacak, Nicole Visyak, Basil T Darras, Athos Bousvaros, Peter B Kang
OBJECTIVE: To characterize the longitudinal clinical and electrophysiological patterns of thalidomide neuropathy in children and adolescents. STUDY DESIGN: Retrospective analysis of clinical records at a tertiary care children's hospital, including serial electrophysiological studies. RESULTS: Sixteen patients aged 6-24 years received thalidomide to treat Crohn's disease from 2002 to 2012. Nine subjects had electrophysiological evidence of sensorimotor axonal polyneuropathy, 8 of whom had sensory and/or motor symptoms...
August 24, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27514792/hypoparathyroidism-a-rare-mimicker-of-amyotrophic-lateral-sclerosis
#20
Haris Hakeem, Masood Uz Zaman, Sara Khan
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) carries a grim prognosis. Various ALS mimics have been reported and should be excluded before confirming this diagnosis. METHODS: We report the case of a 61-year-old man who presented with progressively worsening limb weakness and dysphagia. His examination showed mixed upper and lower motor neuron signs without sensory impairment. ALS was suspected, however atypical diffuse pain prompted diagnostic work-up to exclude other causes...
August 12, 2016: Muscle & Nerve
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