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Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

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1 Published in 2022 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51543

Abstract: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0–47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5’UTR of… read more here.

Keywords: genetic spectrum; hereditary motor; distal hereditary; motor ... See more keywords

A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy

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0 Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.701

Abstract: Vaccinia‐related kinase 1 (VRK1) mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy (dHMN), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous VRK1 p.W375X mutation causing… read more here.

Keywords: distal hereditary; hereditary motor; motor; vrk1 ... See more keywords

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

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1 Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24445

Abstract: MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the peripheral nervous system… read more here.

Keywords: charcot marie; morc2 gene; motor neuropathy; marie tooth ... See more keywords

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)

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1 Published in 2021 at "Neurological Sciences"

DOI: 10.1007/s10072-021-05100-w

Abstract: The protein “ADP-Ribosylarginine Hydrolase-Like Protein 2” is encoded by ADPRHL2 and reverses ADP-ribosylation. Recently, mutations in ADPRHL2 were found to be associated with a very rare childhood onset severe neurodegeneration syndrome with episodic, stress-induced seizures,… read more here.

Keywords: mutation adprhl2; ataxia motor; novel mutation; episodic psychosis ... See more keywords

Clinical and functional change in multifocal motor neuropathy treated with IVIg

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1 Published in 2019 at "Journal of Clinical Neuroscience"

DOI: 10.1016/j.jocn.2019.08.016

Abstract: We determined the clinical progression, disability and outcome of 11 Multifocal Motor Neuropathy (MMN) patients from Malaysia. Mean patient age was 46.8 (SD 13.3), with mean disease duration of 108.0 months (SD 80.2). All reported unilateral… read more here.

Keywords: multifocal motor; motor; motor neuropathy; ivig dose ... See more keywords

Ultrasound in Multifocal Motor Neuropathy: Clinical and Electrophysiological Correlations.

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0 Published in 2019 at "Journal of Clinical Neuromuscular Disease"

DOI: 10.1097/cnd.0000000000000250

Abstract: OBJECTIVES Multifocal motor neuropathy (MMN) is a treatable autoimmune polyneuropathy, which may prove challenging diagnostically in the setting of absent conduction blocks or advanced axonal loss. Relatively few studies have examined the role of ultrasound… read more here.

Keywords: multifocal motor; nerve; neuropathy clinical; motor ... See more keywords

Loss of Stathmin-2, a hallmark of TDP-43-associated ALS, causes motor neuropathy

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2 Published in 2022 at "Cell reports"

DOI: 10.1101/2022.03.13.484188

Abstract: TDP-43 mediates proper Stathmin-2 (STMN2) mRNA splicing, and STMN2 protein is reduced in the spinal cord of most ALS patients. To test the hypothesis that STMN2 loss contributes to ALS pathogenesis, we generated constitutive and… read more here.

Keywords: loss; stmn2; pathology; motor neuropathy ... See more keywords

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy

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1 Published in 2022 at "Cold Spring Harbor Molecular Case Studies"

DOI: 10.1101/mcs.a006246

Abstract: Aminoacyl-tRNA synthetases (ARSs) are essential enzymes with a critical role in protein synthesis: charging tRNA molecules with cognate amino acids. Heterozygosity for variants in five genes (AARS1, GARS1, HARS1, WARS1, and YARS1) encoding cytoplasmic, dimeric… read more here.

Keywords: loss function; motor neuropathy; yars1;

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family

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1 Published in 2019 at "Clinical Genetics"

DOI: 10.1111/cge.13563

Abstract: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic… read more here.

Keywords: distal hereditary; hereditary motor; genetics; family ... See more keywords

Broadening the genetic spectrum of distal hereditary motor neuropathy

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0 Published in 2021 at "European Journal of Neurology"

DOI: 10.1111/ene.14734

Abstract: In this issue of the Journal, Frasquet et al. report on the genetic spectrum of a large cohort of patients with distal hereditary motor neuropathy (dHMN) from two large centres in Spain1 . All patients… read more here.

Keywords: motor neuropathy; distal hereditary; hereditary motor; genetic spectrum ... See more keywords

A recurrent GARS mutation causes distal hereditary motor neuropathy

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0 Published in 2019 at "Journal of the Peripheral Nervous System"

DOI: 10.1111/jns.12353

Abstract: We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype ‐ motor weakness that began in late childhood, distal weakness in the arms and legs, a motor… read more here.

Keywords: causes distal; motor; gars mutation; mutation causes ... See more keywords