Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

P. A. James; M. Z. Cader; F. Muntoni; A. M. Childs; Y. J. Crow; K. Talbot

doi:10.1212/01.wnl.0000242619.52335.bc

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

P. A. James, M. Z. Cader, F. Muntoni, A. M. Childs, Y. J. Crow, K. Talbot

Research output: Contribution to journal › Article › peer-review

Abstract

We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations. ©2006AAN Enterprises, Inc.

Original language	English
Pages (from-to)	1710-1712
Number of pages	2
Journal	Neurology
Volume	67
Issue number	9
DOIs	https://doi.org/10.1212/01.wnl.0000242619.52335.bc
Publication status	Published - Nov 2006

Keywords

Adult
Aged, 80 and over
genetics: Anticodon
metabolism: Axons
genetics: Binding Sites
genetics: Charcot-Marie-Tooth Disease
Child
Cohort Studies
DNA Mutational Analysis
Female
genetics: Genetic Predisposition to Disease
Genetic Screening
genetics: Glycine-tRNA Ligase
Humans
Male
metabolism: Motor Neurons
innervation: Muscle, Skeletal
genetics: Mutation
genetics: Protein Biosynthesis
genetics: Protein Structure, Tertiary
genetics: Spinal Muscular Atrophies of Childhood
genetics: Wallerian Degeneration

Access to Document

10.1212/01.wnl.0000242619.52335.bc

Cite this

@article{649ed2d9b86244deb4dfb5c260571618,

title = "Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene",

abstract = "We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations. {\textcopyright}2006AAN Enterprises, Inc.",

keywords = "Adult, Aged, 80 and over, genetics: Anticodon, metabolism: Axons, genetics: Binding Sites, genetics: Charcot-Marie-Tooth Disease, Child, Cohort Studies, DNA Mutational Analysis, Female, genetics: Genetic Predisposition to Disease, Genetic Screening, genetics: Glycine-tRNA Ligase, Humans, Male, metabolism: Motor Neurons, innervation: Muscle, Skeletal, genetics: Mutation, genetics: Protein Biosynthesis, genetics: Protein Structure, Tertiary, genetics: Spinal Muscular Atrophies of Childhood, genetics: Wallerian Degeneration",

author = "James, {P. A.} and Cader, {M. Z.} and F. Muntoni and Childs, {A. M.} and Crow, {Y. J.} and K. Talbot",

year = "2006",

month = nov,

doi = "10.1212/01.wnl.0000242619.52335.bc",

language = "English",

volume = "67",

pages = "1710--1712",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams & Wilkins",

number = "9",

}

TY - JOUR

T1 - Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

AU - James, P. A.

AU - Cader, M. Z.

AU - Muntoni, F.

AU - Childs, A. M.

AU - Crow, Y. J.

AU - Talbot, K.

PY - 2006/11

Y1 - 2006/11

N2 - We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations. ©2006AAN Enterprises, Inc.

AB - We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations. ©2006AAN Enterprises, Inc.

KW - Adult

KW - Aged, 80 and over

KW - genetics: Anticodon

KW - metabolism: Axons

KW - genetics: Binding Sites

KW - genetics: Charcot-Marie-Tooth Disease

KW - Child

KW - Cohort Studies

KW - DNA Mutational Analysis

KW - Female

KW - genetics: Genetic Predisposition to Disease

KW - Genetic Screening

KW - genetics: Glycine-tRNA Ligase

KW - Humans

KW - Male

KW - metabolism: Motor Neurons

KW - innervation: Muscle, Skeletal

KW - genetics: Mutation

KW - genetics: Protein Biosynthesis

KW - genetics: Protein Structure, Tertiary

KW - genetics: Spinal Muscular Atrophies of Childhood

KW - genetics: Wallerian Degeneration

U2 - 10.1212/01.wnl.0000242619.52335.bc

DO - 10.1212/01.wnl.0000242619.52335.bc

M3 - Article

SN - 0028-3878

VL - 67

SP - 1710

EP - 1712

JO - Neurology

JF - Neurology

IS - 9

ER -

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

Abstract

Keywords

Access to Document

Fingerprint

Cite this