Brain structure in juvenile-onset Huntington disease.

Adolescent Adult Animals Brain / diagnostic imaging Child Child, Preschool Disease Models, Animal Female Gray Matter / diagnostic imaging Humans Huntington Disease / diagnostic imaging Magnetic Resonance Imaging Male Mice Organ Size / physiology White Matter / diagnostic imaging Young Adult

Journal

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

Informations de publication

Date de publication:
23 04 2019
Historique:
received: 11 06 2018
accepted: 27 12 2018
pubmed: 12 4 2019
medline: 18 12 2019
entrez: 12 4 2019
Statut: ppublish

Résumé

To assess brain morphometry in a sample of patients with juvenile-onset Huntington disease (JOHD) and several mouse models of Huntington disease (HD) that likely represent the human JOHD phenotype. Despite sharing the mutation in the Huntingtin gene, adult-onset HD characteristically presents as a hyperkinetic motor disorder, while JOHD typically presents as a hypokinetic motor disease. The University of Iowa Kids-JHD program enrolls individuals 5 to 25 years of age who have already received the clinical diagnosis. A total of 19 children with juvenile HD (JHD) (mean CAG = 72) were studied. Patients with JHD were compared to healthy controls (n = 234) using a cross-sectional study design. Volumetric data from structural MRI was compared between groups. In addition, we used the same procedure to evaluate brain morphology of R6/2, zQ175, HdhQ250 HD mice models. Participants with JHD had substantially reduced intracranial volumes. After controlling for the small intracranial volume size, the volumes of subcortical regions (caudate, putamen, globus pallidus, and thalamus) and of cortical white matter were significantly decreased in patients with JHD. However, the cerebellum was proportionately enlarged in the JHD sample. The cerebral cortex was largely unaffected. Likewise, HD mice had a lower volume of striatum and a higher volume of cerebellum, mirroring the human MRI results. The primary pathology of JOHD extends beyond changes in the striatal volume. Brain morphology in both mice and human patients with JHD shows proportional cerebellar enlargement. This pattern of brain changes may explain the unique picture of hypokinetic motor symptoms in JHD, which is not seen in the hyperkinetic chorea-like phenotype of adult-onset HD.

Identifiants

DOI: 10.1212/WNL.0000000000007355 PMID: 30971481 PMC: PMC6511077
pubmed: 30971481
pii: WNL.0000000000007355
doi: 10.1212/WNL.0000000000007355
pmc: PMC6511077
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e1939-e1947

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS055903
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007337
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS055903
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Alexander Tereshchenko (A)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.
ORCID: 0000-0002-0840-2675

Vincent Magnotta (V)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Eric Epping (E)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Katherine Mathews (K)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Patricia Espe-Pfeifer (P)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Erin Martin (E)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Jeffrey Dawson (J)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Wenzhen Duan (W)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Peg Nopoulos (P)

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD. peggy-nopoulos@uiowa.edu.

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Classifications MeSH

Recherchemedicale.com › Personnes › Tranches d'âge › Adolescent › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Eucaryotes › Animaux › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Système nerveux › Système nerveux central › Encéphale › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Personnes › Tranches d'âge › Enfant › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Système nerveux › Système nerveux central › Moelle spinale › Substance grise › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Troubles mentaux › Troubles neurocognitifs › Démence › Maladie de Huntington › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Phénomènes physiologiques › Croissance et développement › Croissance › Taille d'organe › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Système nerveux › Système nerveux central › Moelle spinale › Substance blanche › Brain structure in juvenile-onset Huntington disease.
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Jeune adulte › Brain structure in juvenile-onset Huntington disease.