Speckled lentiginous nevus: A rare presentation associated with motor neuropathy and muscular atrophy in a child

2018 ◽  
Vol 35 (3) ◽  
pp. e161-e162
Author(s):  
Tanya Greywal ◽  
Catalina Matiz
Keyword(s):  
Muscular Atrophy ◽  
Motor Neuropathy ◽  
Rare Presentation ◽  
Speckled Lentiginous Nevus

Neurofilament Proteins as Prognostic Biomarkers in Neurological Disorders

2020 ◽  
Vol 25 (43) ◽  
pp. 4560-4569 ◽  
Author(s):  
Yichen Lee ◽  
Bo H. Lee ◽  
William Yip ◽  
Pingchen Chou ◽  
Bak-Sau Yip
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Nervous System ◽  
Trinucleotide Repeat ◽  
Muscular Atrophy ◽  
Electric Signal ◽  
Motor Neuropathy ◽  
Post Translational Modification ◽  
Neurofilament Proteins ◽  
Type Iv ◽  
Lateral Sclerosis

Neurofilaments: light, medium, and heavy (abbreviated as NF-L, NF-M, and NF-H, respectively), which belong to Type IV intermediate filament family (IF), are neuron-specific cytoskeletal components. Neurofilaments are axonal structural components and integral components of synapses, which are important for neuronal electric signal transmissions along the axons and post-translational modification. Abnormal assembly of neurofilaments is found in several human neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), infantile spinal muscular atrophy (SMA), and hereditary sensory-motor neuropathy (HSMN). In addition, those pathological neurofilament accumulations are known in α-synuclein in Parkinson’s disease (PD), Aβ and tau in Alzheimer’s disease (AD), polyglutamine in CAG trinucleotide repeat disorders, superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP43), neuronal FUS proteins, optineurin (OPTN), ubiquilin 2 (UBQLN2), and dipeptide repeat protein (DRP) in amyotrophic lateral sclerosis (ALS). When axon damage occurs in central nervous disorders, neurofilament proteins are released and delivered into cerebrospinal fluid (CSF), which are then circulated into blood. New quantitative analyses and assay techniques are well-developed for the detection of neurofilament proteins, particularly NF-L and the phosphorylated NF-H (pNF-H) in CSF and serum. This review discusses the potential of using peripheral blood NF quantities and evaluating the severity of damage in the nervous system. Intermediate filaments could be promising biomarkers for evaluating disease progression in different nervous system disorders.

Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case–control study

2015 ◽  
Vol 262 (3) ◽  
pp. 666-673 ◽  
Author(s):  
Lotte Vlam ◽  
Sanne Piepers ◽  
Nadia A. Sutedja ◽  
Bart C. Jacobs ◽  
Anne P. Tio-Gillen ◽  
...  
Keyword(s):  
Monoclonal Gammopathy ◽  
Case Control Study ◽  
Muscular Atrophy ◽  
Multifocal Motor Neuropathy ◽  
Case Control ◽  
Motor Neuropathy ◽  
Control Study ◽  
Progressive Muscular Atrophy

scholarly journals Cytokine profiles in multifocal motor neuropathy and progressive muscular atrophy

2015 ◽  
Vol 286 ◽  
pp. 1-4 ◽  
Author(s):  
L. Vlam ◽  
M. Stam ◽  
W. de Jager ◽  
E.A. Cats ◽  
L.H. van den Berg ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Multifocal Motor Neuropathy ◽  
Motor Neuropathy ◽  
Cytokine Profiles ◽  
Progressive Muscular Atrophy

scholarly journals CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy

2015 ◽  
Vol 2 (5) ◽  
pp. e138 ◽  
Author(s):  
Takahiro Furukawa ◽  
Naoko Matsui ◽  
Koji Fujita ◽  
Hiroyuki Nodera ◽  
Fumitaka Shimizu ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Multifocal Motor Neuropathy ◽  
Cytokine Profile ◽  
Motor Neuropathy ◽  
Progressive Muscular Atrophy

Diagnostic accuracy of electrically elicited multiplet discharges in patients with motor neuron disease

2014 ◽  
Vol 86 (11) ◽  
pp. 1234-1239 ◽  
Author(s):  
Boudewijn T H M Sleutjes ◽  
Inger Montfoort ◽  
Pieter A van Doorn ◽  
Gerhard H Visser ◽  
Joleen H Blok
Keyword(s):  
Diagnostic Accuracy ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Muscular Atrophy ◽  
High Density ◽  
Lower Motor Neuron ◽  
Cervical Region ◽  
Lower Sensitivity ◽  
Diagnostic Study ◽  
Motor Neuropathy

ObjectiveTo determine and compare the diagnostic accuracy of electrically elicited multiplet discharges (MDs) and fasciculation potentials (FPs) in motor neuron disease (MND).MethodsPatients were eligible when they had MND in their differential diagnosis and were referred for electromyogram (EMG). Stimulated high-density surface EMG of the thenar muscles was performed on the same day as standard EMG examination. High-density recordings were analysed for presence of MDs and needle EMG of any muscle investigated in the cervical region for presence of FPs.ResultsOf the 61 patients enrolled in this diagnostic study, 24 patients were clinically diagnosed with amyotrophic lateral sclerosis (ALS) and 11 patients with progressive muscular atrophy (PMA). Another diagnosis was made in 26 patients. Sixteen patients in whom MDs were detected were diagnosed with either ALS (n=11) or PMA (n=5; sensitivity=47.1%, PPV=94.1%). MDs were detected in only one patient initially diagnosed with PMA, but in whom later on, multifocal motor neuropathy could not be excluded (specificity=96.2%). Electrically elicited MDs had a higher specificity than FPs (96.2% vs 53.9%, p<0.001, n=26) and lower sensitivity (47.1% vs 85.3%, p=0.002, n=34). When considering presence of MDs in MND as neurogenic EMG abnormality, lower motor neuron involvement of ≥1 EMG region increased from 50% to 73.5% (p=0.008, n=34).ConclusionsElectrically evoked MDs are highly specific for ALS and PMA and are an early sign of lower motor neuron dysfunction.

scholarly journals Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Peter Chung ◽  
Hope Northrup ◽  
Misbah Azmath ◽  
Ricardo A. Mosquera ◽  
Shade Moody ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Motor Neuropathy ◽  
Inherited Disorders ◽  
Causative Gene ◽  
Hereditary Motor ◽  
Pathogenic Variants ◽  
Neurogenic Muscular Atrophy ◽  
Hereditary Motor Neuropathy ◽  
Type V

Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.

scholarly journals Screening for GARS Variants in A Cohort of Chinese Patients With Inherited Peripheral Neuropathy

2020 ◽  
Author(s):  
Bo Sun ◽  
Zheng-Qing He ◽  
Yan-Ran Li ◽  
Hong-Fen Wang ◽  
Fang Cui ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Muscular Atrophy ◽  
Case Reports ◽  
Asian Population ◽  
Trna Synthetase ◽  
Chinese Patients ◽  
Motor Neuropathy ◽  
Chinese Han ◽  
Spinal Muscular Atrophy Type ◽  
Detailed Medical History

Abstract Background CMT2D is a rare subtype of axonal CMT, caused by the mutation of glycyl-tRNA synthetase (GARS) gene which is also a disease-causing gene of distal spinal muscular atrophy type V (dSMA-V) or hereditary motor neuropathy 5A (HMN5A). There were only several case reports in China, and no epidemiological study of CMT2D/ HMN5A yet.Methods We recruited the patients of Chinese Han descent clinically diagnosed with inherited peripheral neuropathy (IPN) from the Department of Neurology at Chinese PLA General Hospital (Beijing, China) from December 20, 2012 to July 31, 2019. All patients underwent a detailed medical history, neurological examination, laboratory examination, electrophysiological studies, and genetic testing.Results A total of 206 unrelated patients underwent genetic analysis, and we found four mutations of GARS from four different families, including c.794C>T (p.S265F), c.374A>G (p.E125G), c.1000A>T (p.I334F) and c.781T>G (p.Y261D), the first three of them were considered pathogenic. As for the three pathogenic mutation carriers, one patient was diagnosed as CMT2D, two patients were diagnosed as HMN5A.Conclusion GARS mutation is a rare cause of inherited peripheral neuropathy and the phenotype tends to be CMT2D or HMN5A. There might be a relatively higher mutation frequency in Asian population compared with Caucasians. Combination of clinical phenotype, auxiliary tests and genetic evidence to assess the pathogenicity of genetic variants in patients suspected as IPN is of vital importance.

Sign in / Sign up

Export Citation Format

Share Document