Identification of GGC repeat expansion in the

Amyotrophic Lateral Sclerosis / genetics DNA Repeat Expansion / genetics Disease Progression Humans Intranuclear Inclusion Bodies / genetics Male Middle Aged Neurodegenerative Diseases / genetics Phenotype Severity of Illness Index

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
15 12 2020
Historique:
received: 20 02 2020
accepted: 03 08 2020
pubmed: 30 9 2020
medline: 26 1 2021
entrez: 29 9 2020
Statut: ppublish

Résumé

To determine whether the GGC repeats in the In this study, 545 patients with ALS and 1,305 healthy controls from mainland China were recruited. Several pathogenic mutations in known ALS-causative genes (including GGC repeat expansion was observed in 4 patients (numbers of repeats 44, 54, 96, and 143), accounting for ≈0.73% (4 of 545) of all patients with ALS. A comparison with 1,305 healthy controls revealed that GGC repeat expansion in Our results suggest that ALS is a specific phenotype of NIID or that GGC expansion in

Identifiants

DOI: 10.1212/WNL.0000000000010945 PMID: 32989102
pubmed: 32989102
pii: WNL.0000000000010945
doi: 10.1212/WNL.0000000000010945
doi:

Types de publication

Comparative Study Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e3394-e3405

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2020 American Academy of Neurology.

Auteurs

Yanchun Yuan (Y)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Zhen Liu (Z)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Xuan Hou (X)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Wanzhen Li (W)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China. junling.wang@csu.edu.cn.

Jie Ni (J)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Ling Huang (L)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Yiting Hu (Y)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Pan Liu (P)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Xiaorong Hou (X)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Jin Xue (J)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Qiying Sun (Q)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Yun Tian (Y)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Bin Jiao (B)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Ranhui Duan (R)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Hong Jiang (H)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Lu Shen (L)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Beisha Tang (B)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Junling Wang (J)

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China. junling.wang@csu.edu.cn.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Identification of GGC repeat expansion in the
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Identification of GGC repeat expansion in the
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Évolution de la maladie › Identification of GGC repeat expansion in the
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Identification of GGC repeat expansion in the
questionsmedicales.fr › Cellules › Structures cellulaires › Corps d'inclusion › Corps d'inclusion intranucléaire › Identification of GGC repeat expansion in the
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Identification of GGC repeat expansion in the
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Identification of GGC repeat expansion in the
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Identification of GGC repeat expansion in the
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Enquêtes de santé › Indicateurs d'état de santé › Acuité des besoins du patient › Indice de gravité de la maladie › Identification of GGC repeat expansion in the