keyword
MENU ▼
Read by QxMD icon Read
search

Genetic neuronopathies

keyword
https://www.readbyqxmd.com/read/27830184/novel-hspb1-mutation-causes-both-motor-neuronopathy-and-distal-myopathy
#1
D J Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, R Horvath, P F Chinnery
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27751652/a-case-of-congenital-spinal-muscular-atrophy-with-pain-due-to-a-mutation-in-trpv4
#2
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
https://www.readbyqxmd.com/read/27569547/impaired-presynaptic-high-affinity-choline-transporter-causes-a-congenital-myasthenic-syndrome-with-episodic-apnea
#3
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27351300/progressive-ataxia-and-palatal-tremor-think-about-polg-mutations
#4
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
https://www.readbyqxmd.com/read/27098666/multiple-system-atrophy-pathogenic-mechanisms-and-biomarkers
#5
REVIEW
Kurt A Jellinger, Gregor K Wenning
Multiple system atrophy (MSA) is a unique proteinopathy that differs from other α-synucleinopathies since the pathological process resulting from accumulation of aberrant α-synuclein (αSyn) involves the oligodendroglia rather than neurons, although both pathologies affect multiple parts of the brain, spinal cord, autonomic and peripheral nervous system. Both the etiology and pathogenesis of MSA are unknown, although animal models have provided insight into the basic molecular changes of this disorder. Accumulation of aberrant αSyn in oligodendroglial cells and preceded by relocation of p25α protein from myelin to oligodendroglia results in the formation of insoluble glial cytoplasmic inclusions that cause cell dysfunction and demise...
June 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/26989944/charcot-marie-tooth-type-2-and-distal-hereditary-motor-neuropathy-clinical-neurophysiological-and-genetic-findings-from-a-single-centre-experience
#6
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
https://www.readbyqxmd.com/read/26806218/amyotrophic-lateral-sclerosis-causes-small-fiber-pathology
#7
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
https://www.readbyqxmd.com/read/26708559/pattern-of-peripheral-nerve-involvement-in-spinocerebellar-ataxia-type-2-a-neurophysiological-assessment
#8
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
https://www.readbyqxmd.com/read/26059445/spontaneous-activity-in-electromyography-may-differentiate-certain-benign-lower-motor-neuron-disease-forms-from-amyotrophic-lateral-sclerosis
#9
Manu E Jokela, Satu K Jääskeläinen, Satu Sandell, Johanna Palmio, Sini Penttilä, Annamaija Saukkonen, Raija Soikkeli, Bjarne Udd
There is limited data on electromyography (EMG) findings in other motor neuron disorders than amyotrophic lateral sclerosis (ALS). We assessed whether the distribution of active denervation detected by EMG, i.e. fibrillations and fasciculations, differs between ALS and slowly progressive motor neuron disorders. We compared the initial EMG findings of 43 clinically confirmed, consecutive ALS patients with those of 41 genetically confirmed Late-onset Spinal Motor Neuronopathy and 14 Spinal and Bulbar Muscular Atrophy patients...
August 15, 2015: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/25958341/sil1-related-marinesco-sjoegren-syndrome-mss-with-associated-motor-neuronopathy-and-bradykinetic-movement-disorder
#10
Susan Byrne, Nomazulu Dlamini, Daniel Lumsden, Matthew Pitt, Irina Zaharieva, Francesco Muntoni, Andrew King, Leema Robert, Heinz Jungbluth
Marinesco-Sjoegren syndrome (MSS) is a recessively inherited multisystem disorder caused by mutations in SIL1 and characterized by cerebellar atrophy with ataxia, cataracts, a skeletal muscle myopathy, and variable degrees of developmental delay. Pathogenic mechanisms implicated to date include mitochondrial, nuclear envelope and lysosomal-autophagic pathway abnormalities. Here we present a 5-year-old girl with SIL1-related MSS and additional unusual features of an associated motor neuronopathy and a bradykinetic movement disorder preceding the onset of ataxia...
July 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25428574/late-onset-spinal-motor-neuronopathy-is-caused-by-mutation-in-chchd10
#11
Sini Penttilä, Manu Jokela, Heidi Bouquin, Anna Maija Saukkonen, Jari Toivanen, Bjarne Udd
OBJECTIVE: A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN/SMAJ; Online Mendelian Inheritance in Man #615048), an autosomal dominant disease mapped to chromosome 22q11.2. METHODS: The previous genetic linkage approach by microsatellite haplotyping was continued in new families. A whole genome sequencing was performed to find all possibly pathogenic mutations in the linked area. The detected variations were verified by Sanger sequencing...
January 2015: Annals of Neurology
https://www.readbyqxmd.com/read/25374767/head-and-arm-tremor-in-x-linked-spinal-and-bulbar-muscular-atrophy
#12
Irene Aicua, Okker Verhagen, Naroa Arenaza, Esther Cubo
BACKGROUND: X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation is exceedingly rare. Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy. CASE REPORT: We report a case of a 58-year-old male with a positive family history of tremor...
2014: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/25042002/the-clinical-spectrum-of-isolated-peripheral-motor-dysfunction
#13
Alan B Sanderson, W David Arnold, Bakri Elsheikh, John T Kissel
INTRODUCTION: Isolated peripheral motor dysfunction due to lower motor neuron or peripheral nerve disorders presents an interesting challenge to clinicians because of the diverse differential diagnosis with a broad range of prognoses. METHODS: We retrospectively reviewed clinical data of adults who presented over 12 years with muscle weakness, atrophy, or fasciculations, but without hyperreflexia or sensory involvement. RESULTS: In 119 patients, 52% had a motor neuron disease (MND), 13% had immune neuropathies, 11% had genetic neuronopathies, 10% had residual or post-polio syndrome, 5% had benign fasciculation, 1% had an infectious etiology, and 8% were not given a final diagnosis...
March 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/24616084/mutations-in-riboflavin-transporter-present-with-severe-sensory-loss-and-deafness-in-childhood
#14
Myriam Srour, Maria Lisa Putorti, Jeremy Schwartzentruber, Véronique Bolduc, Michael Israel Shevell, Chantal Poulin, Erin O'ferrall, Daniela Buhas, Jacek Majewski, Bernard Brais
INTRODUCTION: We have identified a large consanguineous Lebanese family with 5 individuals with severe childhood-onset recessive sensory loss associated with deafness and variable optic atrophy. METHODS: Autozygosity mapping was performed in all affected individuals, followed by whole-exome sequencing (WES) in 2 individuals. RESULTS: WES identified a homozygous missense mutation (c.916G>A, p.G306R) in the cerebral riboflavin transporter SLC52A2, recently shown to cause Brown-Vialetto-Van-Laere syndrome (BVVLS), which is considered primarily a motor neuronopathy...
November 2014: Muscle & Nerve
https://www.readbyqxmd.com/read/24591457/heterozygous-d90a-sod1-mutation-in-a-patient-with-facial-onset-sensory-motor-neuronopathy-fosmn-syndrome-a-bridge-to-amyotrophic-lateral-sclerosis
#15
Eleonora Dalla Bella, Andrea Rigamonti, Vittorio Mantero, Michela Morbin, Stefania Saccucci, Cinzia Gellera, Gabriele Mora, Giuseppe Lauria
OBJECTIVE: To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. METHODS: The patient underwent neurological and neurophysiologic examinations, including blink and jaw reflexes, sural nerve and skin biopsies, and analysis of TARDBP, FUS and C9ORF72 genes. RESULTS: Neurological examination showed diffuse fasciculations, bulbar signs, hypotrophy and weakness of facial, neck, shoulder girdle and first interosseus muscles, and absent corneal reflex...
September 2014: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/24327357/atypical-presentation-of-late-onset-tay-sachs-disease
#16
Andres Deik, Rachel Saunders-Pullman
INTRODUCTION: Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. METHODS: We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. RESULTS: Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme...
May 2014: Muscle & Nerve
https://www.readbyqxmd.com/read/24296360/association-of-a-paraneoplastic-motor-neuron-disease-with-anti-ri-antibodies-and-a-novel-sod1-i18del-mutation
#17
Capucine Diard-Detoeuf, Audrey Dangoumau, Nadège Limousin, Julien Biberon, Patrick Vourc'h, Christian R Andres, Bertrand de Toffol, Julien Praline
INTRODUCTION: Whether motor neuron diseases (MNDs) can be considered in some cases of paraneoplastic syndromes is controversial. We report a case of rapidly progressive motor neuronopathy following a diagnosis of breast carcinoma, with a presence of anti-Ri antibodies, and a novel SOD1 gene mutation. OBSERVATION: An 80-year-old woman with mucinous adenocarcinoma of the left breast for 4 years developed sub-acute quadriparesis. Myography revealed chronic denervation signs...
February 15, 2014: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/24283429/the-brown-vialetto-van-laere-syndrome-a-case-report-and-literature-review
#18
R J Davenport, C J Mumford
We describe a female presenting with a progressive bulbar palsy, deafness and respiratory failure necessitating long-term ventilation. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome, a rare, sometimes inherited progressive ponto-bulbar neuronopathy with associated deafness. This case provides further evidence of the genetic heterogeneity of the syndrome and we describe a previously unreported form of treatment which had negative results. We suggest that improved recognition of this rare syndrome is essential to provide aetiological clues and we describe the worthwhile symptomatic improvement which can be achieved with simple supportive measures...
September 1994: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/24206674/brown-vialetto-van-laere-syndrome-a-riboflavin-responsive-neuronopathy-of-infancy-with-singular-features
#19
Carlotta Spagnoli, Matthew C Pitt, Shamima Rahman, Carlos de Sousa
We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit. Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and abnormal brainstem auditory evoked potentials, leading to a diagnosis of Brown-Vialetto-van Laere Syndrome, confirmed by genetic testing (SLC52A3)...
March 2014: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/23936319/expression-of-human-gaucher-disease-gene-gba-generates-neurodevelopmental-defects-and-er-stress-in-drosophila-eye
#20
Takahiro Suzuki, Masami Shimoda, Kumpei Ito, Shuji Hanai, Hidenobu Aizawa, Tomoki Kato, Kazunori Kawasaki, Terumi Yamaguchi, Hyung Don Ryoo, Naoko Goto-Inoue, Mitsutoshi Setou, Shoji Tsuji, Norio Ishida
Gaucher disease (GD) is the most common of the lysosomal storage disorders and is caused by defects in the GBA gene encoding glucocerebrosidase (GlcCerase). The accumulation of its substrate, glucocylceramide (GlcCer) is considered the main cause of GD. We found here that the expression of human mutated GlcCerase gene (hGBA) that is associated with neuronopathy in GD patients causes neurodevelopmental defects in Drosophila eyes. The data indicate that endoplasmic reticulum (ER) stress was elevated in Drosophila eye carrying mutated hGBAs by using of the ER stress markers dXBP1 and dBiP...
2013: PloS One
keyword
keyword
69053
1
2
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"