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hereditary primary motor sensory neuropathies

Emma R Wilson, Umaiyal Kugathasan, Andrey Y Abramov, Alex J Clark, David L H Bennett, Mary M Reilly, Linda Greensmith, Bernadett Kalmar
Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT). SPT catalyzes the first step of de novo sphingolipid synthesis. Mutations in SPT result in a change in enzyme substrate specificity, which causes the production of atypical deoxysphinganine and deoxymethylsphinganine, rather than the normal enzyme product, sphinganine. Levels of these abnormal compounds are elevated in blood of HSN-1 patients and this is thought to cause the peripheral motor and sensory nerve damage that is characteristic of the disease, by a largely unresolved mechanism...
May 17, 2018: Neurobiology of Disease
Chiara Pisciotta, Michael E Shy
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases that can broadly be classified into two groups: those in which the neuropathy is the sole or primary part of the disorder (Charcot-Marie-Tooth disease, CMT) and those in which the neuropathy is part of a more generalized neurologic or multisystem disorder (e.g., familial amyloid polyneuropathy, neuropathies associated with mitochondrial diseases, with hereditary ataxias, porphyrias). The former is the most common group, with a prevalence of 1 in 2500 people, and this chapter will concentrate on CMT...
2018: Handbook of Clinical Neurology
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A Michael Babcock, George A Carlson, Frances Lefcort
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit (ELP1) for a multi-subunit complex known as Elongator. Since mutations in other Elongator subunits (ELP2 to ELP4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential requirement for Ikbkap in the CNS of mice...
May 1, 2017: Disease Models & Mechanisms
Boglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, Sinead M Murphy, John McHugh, Michael Alexander, Richard Wells, Joanna Davies, David Hilton-Jones, Hanns Lochmüller, Patrick Chinnery, Rita Horvath
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. The axonal form (CMT2) is characterised by decreased action potentials indicating primary axonal damage. The underlying pathology involves axonal degeneration which is supposed to be related to axonal protein dysfunction caused by various gene mutations. The overlapping clinical manifestation of CMT2 with distal hereditary motor neuropathy (dHMN) and intermediate CMT causes further diagnostic difficulties...
August 2015: Journal of Neurology
Jessica Hafner, Roula Ghaoui, Luke Coyle, David Burke, Karl Ng
INTRODUCTION: Acquired and hereditary amyloidosis can cause peripheral neuropathy, but the mechanisms by which this occurs have not been established. Threshold tracking techniques allow in vivo assessment of the properties of the axonal membrane and may shed light on pathogenetic mechanisms underlying neuropathic disorders. METHODS: We studied 10 subjects with primary amyloidosis using conventional nerve conduction studies and quantitative sensory, autonomic, and axonal excitability testing of median motor and sensory fibers...
March 2015: Muscle & Nerve
Hiroshi Tamai, Kazuyuki Ishida, Kensuke Murakami, Norio Narita, Teiji Tominaga, Nobuo Fuse
BACKGROUND: Cancerous cells are known to metastasize to different ocular structures. This happens especially to the choroid in males with lung cancer and females with breast cancer. However, we observed two cases of cancerous metastasis to the optic canal region. Both cases showed only a progressive decrease in vision without any other remarkable ophthalmological symptoms or abnormalities in the affected eye. CASE PRESENTATION: Two females, a 60-year-old and a 73-year-old, came to our hospital because of progressive loss of vision...
2013: BMC Research Notes
Fayçal Hentati, Emna Hentati, Rim Amouri
Giant axonal neuropathy (GAN) is a rare hereditary autosomal recessive neurodegenerative disease affecting both the peripheral and the central nervous system. Clinically it is characterized by an age of onset during the first decade, progressive and severe motor sensory neuropathy followed, in some patients, by the occurrence of various central nervous system signs such as cerebellar syndrome, upper motor neuron signs, or epilepsy. Although kinky hairs are reported in the majority of patients, it is not a constant finding...
2013: Handbook of Clinical Neurology
Pierre Landrieu, Jonathan Baets
Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics...
2013: Handbook of Clinical Neurology
A K Asthana, J S Lubel, G P Kohn
Achalasia is a primary esophageal motility disorder. Unlike diffuse esophageal spasm, it has not previously been described in association with hereditary sensory and motor neuropathy (HSMN). An 18-year-old-male with HSMN with sensorineural deafness presented with a 2-day history of dysphagia to solids and liquids. Achalasia was diagnosed after extensive investigations, and his symptoms resolved with endoscopic and definitive surgical management. His monozygotic twin brother had also been diagnosed with HSMN and suffered from chronic dysphagia, which was also subsequently diagnosed with achalasia...
August 2016: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
Pierre Landrieu, Jonathan Baets, Peter De Jonghe
Hereditary neuropathies (HN) are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission, age of occurrence, and, in selected cases, pathological findings. The combination of these parameters frequently orients towards specific genetic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first pediatric concern. Primary, motor-sensory are the most frequent HN and are dominated by demyelinating AD forms (CMT1)...
2013: Handbook of Clinical Neurology
Elke Ydens, Guillaume Lornet, Veerle Smits, Sofie Goethals, Vincent Timmerman, Sophie Janssens
Peripheral neuropathies are associated with a variety of clinical symptoms ranging from motor and sensory symptoms to autonomic dysfunction. The primary disease causes for peripheral nerve disorders are also very heterogeneous, including genetic causes, inflammation mediated damage and physical trauma. A common theme in these neuropathies is the important contribution of the immune system; leading either to a deterioration or an amelioration of the disease. Immune responses are typically mediated by immune cells such as antigen-presenting cells, macrophages or T-cells...
July 2013: Neurobiology of Disease
Cecilia Bucci, Oddmund Bakke, Cinzia Progida
Mutations of genes whose primary function is the regulation of membrane traffic are increasingly being identified as the underlying causes of various important human disorders. Intriguingly, mutations in ubiquitously expressed membrane traffic genes often lead to cell type- or organ-specific disorders. This is particularly true for neuronal diseases, identifying the nervous system as the most sensitive tissue to alterations of membrane traffic. Charcot-Marie-Tooth (CMT) disease is one of the most common inherited peripheral neuropathies...
December 2012: Progress in Neurobiology
Gabriella Inczedy-Farkas, Viktoria Remenyi, Aniko Gal, Zsofia Varga, Petra Balla, Agnes Udvardy-Meszaros, Benjamin Bereznai, Maria Judit Molnar
BACKGROUND: The aim of our study was to assess psychiatric symptoms in patients with genetically proven primary mutation of the mitochondrial DNA. METHODS: 19 adults with known mitochondrial mutation (MT) have been assessed with the Stanford Health Assessment Questionnaire 20-item Disability Index (HAQ-DI), the Symptom Check List-90-Revised (SCL-90-R), the Beck Depression Inventory-Short Form (BDI-SF), the Hamilton Depression Rating Scale (HDRS) and the clinical version of the Structured Clinical Interview for the the DSM-IV (SCID-I and SCID-II) As control, 10 patients with hereditary sensorimotor neuropathy (HN), harboring the peripheral myelin protein-22 (PMP22) mutation were examined with the same tools...
2012: Behavioral and Brain Functions: BBF
J Weis, I Katona, G Müller-Newen, C Sommer, G Necula, C Hendrich, A C Ludolph, A-D Sperfeld
OBJECTIVE: To investigate the involvement of the epidermal small sensory fibers in the neurodegenerative process in amyotrophic lateral sclerosis (ALS). METHODS: In the present study, skin biopsies of 28 patients with ALS were obtained at an average of 34 months after disease onset by history. Protein gene product 9.5 (PGP9.5) immunohistochemistry findings were compared to 17 age-matched controls. The primary endpoint of the study was to evaluate the decrease in the density of small intraepidermal nerve fibers and to compare the prevalence of small-fiber neuropathy in patients with ALS and in controls...
June 7, 2011: Neurology
Joy Irobi, Leonardo Almeida-Souza, Bob Asselbergh, Vicky De Winter, Sofie Goethals, Ines Dierick, Jyothsna Krishnan, Jean-Pierre Timmermans, Wim Robberecht, Peter De Jonghe, Ludo Van Den Bosch, Sophie Janssens, Vincent Timmerman
Missense mutations (K141N and K141E) in the alpha-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is currently unknown. To address this question, we compared the effect of mutant HSPB8 in primary neuronal and glial cell cultures. In motor neurons, expression of both HSPB8 K141N and K141E mutations clearly resulted in neurite degeneration, as manifested by a reduction in number of neurites per cell, as well as in a reduction in average length of the neurites...
August 15, 2010: Human Molecular Genetics
Francesca Notturno, Margherita Capasso, Angelo DeLauretis, Marinella Carpo, Antonino Uncini
We evaluated serum glial fibrillary acidic protein (GFAP) levels by enzyme-linked immunosorbent assay (ELISA) in controls (n = 30) and in patients with chronic sensory-motor axonal neuropathy (CSMAN) (n = 30), chronic inflammatory demyelinating polyneuropathy (CIDP) (n = 30), multifocal motor neuropathy (MMN) (n = 30), and primary muscular spinal atrophy (PMSA) (n = 15). GFAP levels, expressed as optical density, were increased in CSMAN (median = 1.05) compared to controls (median = 0.41; P < 0.05) and CIDP (median = 0...
July 2009: Muscle & Nerve
Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Fred N Ross-Cisneros, Alfredo A Sadun
Since the early days of mitochondrial medicine, it has been clear that optic atrophy is a very common and sometimes the singular pathological feature in mitochondrial disorders. The first point mutation of mitochondrial DNA (mtDNA) associated with the maternally inherited blinding disorder, Leber's hereditary optic neuropathy (LHON), was recognized in 1988. In 2000, the other blinding disorder, dominant optic atrophy (DOA) Kjer type, was found associated with mutations in the nuclear gene OPA1 that encodes a mitochondrial protein...
May 2009: Biochimica et Biophysica Acta
R Del Bo, M Moggio, M Rango, S Bonato, M G D'Angelo, S Ghezzi, G Airoldi, M T Bassi, M Guglieri, L Napoli, C Lamperti, S Corti, A Federico, N Bresolin, G P Comi
BACKGROUND: The axonal forms of Charcot-Marie-Tooth (CMT2) disease are a clinically and genetically heterogeneous group of disorders. Mitofusin 2 gene (MFN2) mutations are the most common cause of CMT2. Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI). OBJECTIVE: To report on the clinical, neurophysiologic, and neuropathologic features of an Italian family with a novel MFN2 gene mutation and investigate brain functional parameters using magnetic resonance spectroscopy (MRS)...
December 9, 2008: Neurology
Steven S Scherer, Lawrence Wrabetz
The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary alterations of the myelin sheath. A remarkable body of work in patients, as well as animal and cellular models, has defined the clinical and molecular genetics of these illnesses and shed light on how mutations in associated genes produce the heterogeneity of dysmyelinating and demyelinating phenotypes. Here, we review selected recent developments from work on the molecular mechanisms of these disorders and their implications for treatment strategies...
November 1, 2008: Glia
Klaus-Armin Nave, Michael W Sereda, Hannelore Ehrenreich
The hereditary motor and sensory neuropathies (also known as Charcot-Marie-Tooth disease or CMT) are characterized by a length-dependent loss of axonal integrity in the PNS, which leads to progressive muscle weakness and sensory deficits. The 'demyelinating' neuropathies (CMT disease types 1 and 4) are genetically heterogeneous, but their common feature is that the primary defect perturbs myelination. As we discuss in this Review, several new genes associated with CMT1 and CMT4 have recently been identified...
August 2007: Nature Clinical Practice. Neurology
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