scholarly journals Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2003 ◽  
Vol 72 (5) ◽  
pp. 1293-1299 ◽  
Author(s):  
Anthony Antonellis ◽  
Rachel E. Ellsworth ◽  
Nyamkhishig Sambuughin ◽  
Imke Puls ◽  
Annette Abel ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type V ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marco Orsini ◽  
Acary Souza Bulle Oliveira ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant’ Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Rare Form ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type Iv ◽  
Tooth Disease

scholarly journals A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement

2014 ◽  
Vol 54 (11) ◽  
pp. 911-915 ◽  
Author(s):  
Nobuko Kawakami ◽  
Kenichi Komatsu ◽  
Hirofumi Yamashita ◽  
Kengo Uemura ◽  
Nobuyuki Oka ◽  
...  
Keyword(s):  
Respiratory Muscle ◽  
Novel Mutation ◽  
Trna Synthetase ◽  
Disease Type ◽  
Muscle Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Report of a Patient with Multiple Mutations Leading to CharcotMarie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

2020 ◽  
Author(s):  
Atefeh MEHRABI ◽  
Dariush D. FARHUD ◽  
Karim NAYERNIA ◽  
Hossein SADIGHI ◽  
Marjan ZARIF-YEGANEH
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Lower Limbs ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Multiple Genes ◽  
First Case ◽  
Whole Exome ◽  
Different Types ◽  
Tooth Disease

The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. There are several types of Charcot-Marie-Tooth and multiple genes are associated with this disease. Distal spinal muscular atrophy is an extremely rare disorder characterized by progressive pure lower motor neuron involvement. A 24 yr old woman using wheelchair referred to Farhud Genetic Clinic, Tehran, Iran in 2019, with progressive muscular atrophy, pain and Electromyography test suggesting Charcot-Marie-tooth. Both feet and hands were involved. Whole exome sequencing was performed on extracted DNA from her blood sample. We report the first case of a patient with different types of CharcotMarie-Tooth and distal spinal muscular atrophy simultaneously, which are as a result of mutations in multiple genes; this case is very uncommon.

scholarly journals Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

2015 ◽  
Vol 262 (8) ◽  
pp. 1976-1976 ◽  
Author(s):  
Georgios Koutsis ◽  
David Lynch ◽  
Andreea Manole ◽  
Georgia Karadima ◽  
Mary M. Reilly ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Disease Type ◽  
Overlap Syndrome ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

2014 ◽  
Vol 35 (4) ◽  
pp. 512-512 ◽  
Author(s):  
Heather M. McLaughlin ◽  
Reiko Sakaguchi ◽  
William Giblin ◽  
Thomas E. Wilson ◽  
Leslie Biesecker ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Disease Type ◽  
Loss Of Function ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

2011 ◽  
Vol 33 (1) ◽  
pp. 244-253 ◽  
Author(s):  
Heather M. McLaughlin ◽  
Reiko Sakaguchi ◽  
William Giblin ◽  
Thomas E. Wilson ◽  
Leslie Biesecker ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Disease Type ◽  
Loss Of Function ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

2021 ◽  
pp. jnnp-2021-327186
Author(s):  
Menelaos Pipis ◽  
Andrea Cortese ◽  
James M Polke ◽  
Roy Poh ◽  
Jana Vandrovcova ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Lower Limbs ◽  
Reading Frame ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Neurophysiological Studies ◽  
History Of ◽  
Tooth Disease

ObjectiveNeurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).MethodsIn this large observational study, we present phenotype–genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families.ResultsThe majority of patients presented in adulthood with motor-predominant and lower limb-predominant symptoms and the average age of onset was 31.0±15.1 years. A prominent feature was the development of proximal weakness early in the course of the disease. The disease progressed rapidly, unlike other Charcot-Marie-Tooth disease (CMT) subtypes, and half of the patients (53%) needed to use a wheelchair on average 24.1 years after symptom onset. Furthermore, 40% of patients had evidence of early ankle plantarflexion weakness, a feature which is observed in only a handful of CMT subtypes. Neurophysiological studies and MRI of the lower limbs confirmed the presence of a non-length-dependent neuropathy in the majority of patients.All families harboured heterozygous frameshift variants in the last exon of NEFH, resulting in a reading frameshift to an alternate open reading frame and the translation of approximately 42 additional amino acids from the 3' untranslated region (3′-UTR).ConclusionsThis phenotype–genotype study highlights the unusual phenotype of CMT2CC, which is more akin to spinal muscular atrophy rather than classic CMT. Furthermore, the study will enable more informative discussions on the natural history of the disease and will aid in NEFH variant interpretation in the context of the disease’s unique molecular genetics.

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

2015 ◽  
Vol 262 (8) ◽  
pp. 1972-1975 ◽  
Author(s):  
Georgios Koutsis ◽  
David Lynch ◽  
Andreea Manone ◽  
Georgia Karadima ◽  
Mary M. Reilly ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Disease Type ◽  
Overlap Syndrome ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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