Read by QxMD icon Read

hereditary primary motor sensory neuropathies

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
Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Iréne Boccaccio, Eliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, Andre Mégarbané, Georg Haase, Nicolas Lévy
Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle weakness and wasting, foot and hand deformities, and electrophysiological changes. The CMT4H subtype is an autosomal recessive demyelinating form of CMT that was recently mapped to a 15.8-Mb region at chromosome 12p11.21-q13.11, in two consanguineous families of Mediterranean origin, by homozygosity mapping. We report here the identification of mutations in FGD4, encoding FGD4 or FRABIN (FGD1-related F-actin binding protein), in both families...
July 2007: American Journal of Human Genetics
C Sackley, P B Disler, L Turner-Stokes, D T Wade
BACKGROUND: "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint. It may arise from many neuromuscular diseases. OBJECTIVES: To conduct a systematic review of randomised trials of treatment for footdrop resulting from neuromuscular disease. SEARCH STRATEGY: We searched the Cochrane Neuromuscular Disease Group Trials Register (July 2005), MEDLINE (January 1966 to July 2005), EMBASE (January 1980 to July 2005), AMED (January 1985 to July 2005) and CINAHL databases (January 1982 to July 2005)...
2007: Cochrane Database of Systematic Reviews
Hiroshi Takashima
To clarify the specific features and molecular mechanisms of five diseases that we previously reported, we reviewed recent progress in HMSN-P linked to chromosome 3, CMT4F caused by PRX, CMT4A caused by GDAP1, CMT4B2 caused by SBF2/MTMR13F, and SCAN1 caused by TDP1. HMSN-P is characterized by late onset, proximal dominant severe muscle weakness, fasciculations, muscle cramp and sensory involvement. HMSN-P is a primary neuronopathy. Mutations in periaxin are associated with a broad spectrum of demyelinating neuropathies including DSS, a sensory dominant form and early onset slowly progressive CMT...
November 2006: Rinshō Shinkeigaku, Clinical Neurology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"