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Sensory neuronopathy

Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Raphael Fernandes Casseb, Jean Levi Ribeiro de Paiva, Lucas Melo Teixeira Branco, Alberto Rolim Muro Martinez, Fabiano Reis, José Carlos de Lima-Junior, Gabriela Castellano, Marcondes Cavalcante França Junior
INTRODUCTION: We investigated whether MR diffusion tensor imaging (DTI) analysis of the cervical spinal cord could aid the (differential) diagnosis of sensory neuronopathies, an underdiagnosed group of diseases of the peripheral nervous system. METHODS: We obtained spinal cord DTI and T2WI at 3 T from 28 patients, 14 diabetic subjects with sensory-motor distal polyneuropathy, and 20 healthy controls. We quantified DTI-based parameters and looked at the hyperintense T2W signal at the spinal cord posterior columns...
August 25, 2016: Neuroradiology
Derrece Reid, Yuliya Zinger, Divisha Raheja
No abstract text is available yet for this article.
September 2016: Journal of Clinical Neuromuscular Disease
Michael K Schäfer, Sarah Bellouze, Arnaud Jacquier, Sébastien Schaller, Laurence Richard, Stéphane Mathis, Jean-Michel Vallat, Georg Haase
Motor neuron diseases such as amyotrophic lateral sclerosis (ALS) are now recognized as multi-system disorders also involving various non-motor neuronal cell types. The precise extent and mechanistic basis of non-motor neuron damage in human ALS and ALS animal models remain however unclear. To address this, we here studied progressive motor neuronopathy (pmn) mice carrying a missense loss-of-function mutation in tubulin binding cofactor E (TBCE). These mice manifest a particularly aggressive form of motor axon dying back and display a microtubule loss, similar to that induced by human ALS-linked TUBA4A mutations...
August 4, 2016: Brain Pathology
Divpreet Kaur, Divisha Raheja
The presence of P/Q type voltage gated calcium channel (VGCC) antibodies has been strongly correlated with Lambert Eaton Syndrome (LES), present in 90% of non-immunocompromised patients with LES. However, there have been case reports which have shown its association between paraneoplastic syndrome affecting both central nervous system and the peripheral nervous system causing encephalomyelitis and sensory neuronopathy/neuropathy. We present a case of a young man, who presented with encephalomyelitis, and was further noted to have superimposed cervical polyradiculopathy associated with P/Q type VGCC antibodies...
November 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Qian Zheng, Lan Chu, Liming Tan, Hainan Zhang
Facial onset sensory and motor neuronopathy (FOSMN) is a recently defined slowly progressive motor neuron disorder. It is characterized by facial onset sensory abnormalities which may spread to the scalp, neck, upper trunk and extremities, followed by lower motor neuron deficits. Bulbar symptoms, such as dysarthria and dysphagia, muscle weakness, cramps and fasciculations, can present later in the course of the disease. We search the PubMed database for articles published in English from 2006 to 2016 using the term of "Facial onset sensory and motor neuronopathy"...
July 29, 2016: Neurological Sciences
Tanya J Lehky, Catherine Groden, Barbara Lear, Camilo Toro, Wendy J Introne
INTRODUCTION: Chediak-Higashi disease (CHD) is a rare autosomal recessive disorder with hematologic, infectious, pigmentary, and neurologic manifestations. Classic CHD (C-CHD) presents in early childhood with severe infectious or hematologic complications unless treated with bone marrow transplantation (BMT). Atypical CHD (A-CHD) has less severe hematologic and infectious manifestations. Both C-CHD and A-CHD develop neurological problems. METHODS: Eighteen patients with CHD (9 A-CHD and 9 C-CHD) underwent electrodiagnostic studies as part of a natural history study (NCT00005917)...
July 18, 2016: Muscle & Nerve
Marie Mongin, Cécile Delorme, Timothée Lenglet, Claude Jardel, Catherine Vignal, Emmanuel Roze
BACKGROUND: Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN: PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE: POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present.
2016: Tremor and Other Hyperkinetic Movements
Sefik Evren Erdener, Atay Vural, Cagri Mesut Temucin, Sevim Erdem Ozdamar, Gulay Nurlu, Kubilay Varli, Nese Dericioglu
Sensory neuronopathy is a well-established presentation in paraneoplastic neurological syndromes that is mostly associated with small cell lung cancer and anti-Hu antibodies. Motor neuronopathy, on the other hand, is an extremely rare observation in this syndrome. A 56-year-old man presented with asymmetric brachial diparesis and sensory ataxia. Electrophysiological studies revealed sensory ganglionopathy and progressive anterior horn degeneration in cervical segments. Small cell lung carcinoma with associated anti-Hu antibodies was later diagnosed...
2016: Internal Medicine
P Ricardo Pereira, Karine Viala, Thierry Maisonobe, Julien Haroche, Alexis Mathian, Miguel Hié, Zahir Amoura, Fleur Cohen Aubart
Primary Sjögren syndrome (SS) is an autoimmune disease mainly affecting the exocrine glands causing a sicca syndrome. Neurological manifestations are rarely seen in SS although they are debilitating. Peripheral neuropathies namely sensory axonal neuropathy and painful small fiber neuropathy are the most frequent neurological manifestations. Sensory neuronopathy (SN) is less frequently seen although leading to more severe handicap.The aim of the study was to analyze the clinical presentation and treatment efficacy in a series of SS-related SN...
May 2016: Medicine (Baltimore)
A Storstein, M Raspotnig, R Vitaliani, B Giometto, F Graus, W Grisold, J Honnorat, C A Vedeler
Prostate cancer is the most common cancer among American and European men. Nervous system affection caused by local tumor growth or osseous metastases are the main causes of neurological symptoms in prostate cancer patients. Prostate cancer is rarely reported in association with paraneoplastic neurological syndromes (PNS). We have, therefore, studied clinical and paraclinical findings of a series of patients with prostate cancer and PNS, and reviewed cases reported in the literature. Case histories of 14 patients with definite PNS from the PNS Euronetwork database and from the authors' databases were reviewed...
May 2016: Journal of Neurology
Marco Luigetti, Gian Maria Fabrizi, Giulia Bisogni, Angela Romano, Federica Taioli, Moreno Ferrarini, Daniela Bernardo, Paolo Maria Rossini, Mario Sabatelli
OBJECTIVES: CMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2). Distal Hereditary Motor Neuropathy (dHMN) is a motor neuropathy/neuronopathy which resembles CMT. Final genetic diagnosis is poor in CMT2 and in dHMN when compared with CMT1. Our aim is to report clinical, neurophysiological and genetic findings in a cohort of patients with axonal inherited neuropathies. PATIENTS AND METHODS: We report clinical, neurophysiological and genetic findings from 45 patients with CMT2 or dHMN, coming from 39 unrelated families, observed in our Institute of Neurology over a 20-year period...
May 2016: Clinical Neurology and Neurosurgery
M Ghadiri-Sani, A J Larner, R K Menon
No abstract text is available yet for this article.
January 2016: British Journal of Hospital Medicine
José Gazulla, María Jesús Pablo-Zaro, Jesús Fraile-Rodrigo, Pilar Larrodé
No abstract text is available yet for this article.
July 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Lixin Zhou, Hongzhi Guan, Hongsheng Liu, Yicheng Zhu, Bin Peng, Shanqing Li, Liying Cui
OBJECTIVE: The aim of this study is to explore the clinical characteristics, treatment and prognosis of pareneoplastic neurological syndrome (PNS) associated with small cell lung cancer (SCLC) in a single-center cohort. METHODS: We retrospectively and consecutively reviewed 34 patients (22 male and 12 female, mean age 55.4 years old) diagnosed as PNS associated with SCLC in our hospital from 2001 to 2014 and investigated the clinical features, related antibodies, treatment and prognosis in this cohort...
October 6, 2015: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Jean-Christophe Antoine, Florence Robert-Varvat, Thierry Maisonobe, Alain Créange, Jérôme Franques, Stéphane Mathis, Emilien Delmont, Thierry Kuntzer, Jean-Pascal Lefaucheur, Jean Pouget, Karine Viala, Claude Desnuelle, Andoni Echaniz-Laguna, Francesco Rotolo, Jean-Philippe Camdessanché
BACKGROUND: Patients with inflammatory sensory neuronopathy (SNN) may benefit from immunomodulatory or immunosuppressant treatments if administered timely. Knowing the temporal profile of neuronal loss in dorsal root ganglia will help to ascertain whether a final diagnosis may be reached before the occurrence of irreversible neuronal injuries. Thus, we addressed the evolution of neuronal loss in SNN by using sensory nerve action potentials (SNAPs) as a surrogate marker of neuron degeneration...
February 15, 2016: Journal of the Neurological Sciences
E Dalla Bella, R Lombardi, C Porretta-Serapiglia, C Ciano, C Gellera, V Pensato, D Cazzato, G Lauria
BACKGROUND AND PURPOSE: Our aim was to address the correlation between small fiber loss and amyotrophic lateral sclerosis (ALS) for disease onset, phenotype, genotype, duration, severity and sensory findings. METHODS: Consecutive patients referred for suspected ALS were screened. Exclusion criteria were possible ALS and previous diagnosis or known risk factors for small fiber neuropathies. A sural nerve conduction study (NCS) was bilaterally recorded. The ALS functional rating scale revised was administered and loss of functions were calculated using the Milano-Torino staging (MITOS) system...
February 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Marcio Luiz Escorcio Bezerra, José Luiz Pedroso, Pedro Braga-Neto, Agessandro Abrahao, Marcus Vinicius Cristino de Albuquerque, Franklin Roberto Pereira Borges, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Nadia Iandoli de Oliveira Braga, Gilberto Mastrocola Manzano, Orlando G P Barsottini
Peripheral neuropathy is frequent in spinocerebellar ataxia type 2 (SCA2), but the pattern and characteristics of nerve involvement are still an unsettled issue. This study aimed to evaluate the prevalence, extent, and distribution of nerve involvement in SCA2 patients through neurophysiological studies. Thirty-one SCA2 patients and 20 control subjects were enrolled in this study. All subjects were prospectively evaluated through electromyography, including nerve conduction, needle electromyography in proximal and distal muscles of the upper and lower limbs, and sural radial amplitude ratio (SRAR)...
December 26, 2015: Cerebellum
Manu E Jokela, Bjarne Udd
Kennedy's disease or spinal and bulbar muscular atrophy (SBMA) is a multi-system disorder affecting adult males, which is characterized by weakness of limbs and faciobulbar muscles primarily due to loss of lower motor neurons. Besides the obvious motor neuronopathy, additional findings in a substantial proportion of SBMA patients include sensory neuropathy and signs of androgen deficiency, such as poor sexual functioning and reduced fertility with gynaecomastia. The presence of elevated glucose, liver pathology or dyslipidaemia is less consistent features...
March 2016: Journal of Molecular Neuroscience: MN
Haruki Koike
From the perspective of neuropathies with an acute onset mimicking that of Guillain-Barr? syndrome (GBS), cases with profound sensory and/or autonomic impairment without any significant weakness have been reported. Although the possibility of infectious or toxic etiologies should be carefully excluded, immune mechanisms similar to those in GBS are suggested to be involved in these so-called acute sensory neuropathies and acute autonomic neuropathies. The types of neuropathy include those with predominant sensory manifestations, predominant autonomic manifestations such as autoimmune autonomic ganglionopathy, and both sensory and autonomic manifestations such as acute autonomic and sensory neuropathy...
November 2015: Brain and Nerve, Shinkei Kenkyū No Shinpo
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