Phenotypic variability in chorea-acanthocytosis associated with novel

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Jun 2020
Historique:
received: 16 10 2019
accepted: 27 03 2020
entrez: 5 6 2020
pubmed: 5 6 2020
medline: 5 6 2020
Statut: epublish

Résumé

To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. Clinical assessments, targeted genetic studies, neuroimaging with MRI, [ Four patients living in Sweden but with different ethnical backgrounds were included. Their clinical features were variable. Biallelic Larger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc.

Identifiants

DOI: 10.1212/NXG.0000000000000426 PMID: 32494755 PMC: PMC7217656
pubmed: 32494755
doi: 10.1212/NXG.0000000000000426
pii: NG2019012112
pmc: PMC7217656
doi:

Banques de données

Dryad
['10.5061/dryad.7h44j0zr9']

Types de publication

Journal Article

Langues

eng

Pagination

e426

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Références

Ann Neurol. 1991 Aug;30(2):166-71
pubmed: 1897909
J Neurol. 2007 Jul;254(7):890-6
pubmed: 17325818
J Neurol. 2007 Aug;254(8):1081-8
pubmed: 17294064
Parkinsonism Relat Disord. 2018 Apr;49:17-21
pubmed: 29317187
Neurology. 2015 Nov 10;85(19):e143-4
pubmed: 26553947
Mov Disord. 2010 Dec 15;25(16):2894-7
pubmed: 20842686
Eur Neurol. 2006;56(1):17-23
pubmed: 16914926
Psychiatry Res. 2011 Apr 30;192(1):29-36
pubmed: 21377843
Eur J Neurol. 2010 Apr;17(4):612-8
pubmed: 19968700
Clin Nucl Med. 2015 Dec;40(12):979-80
pubmed: 26359566

Auteurs

Valter Niemelä (V)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Ammar Salih (A)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Daniela Solea (D)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Björn Lindvall (B)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Jan Weinberg (J)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Gabriel Miltenberger (G)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Tobias Granberg (T)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Aikaterini Tzovla (A)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Love Nordin (L)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Torsten Danfors (T)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Irina Savitcheva (I)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Niklas Dahl (N)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

Martin Paucar (M)

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.
ORCID: 0000-0003-3735-1480

Classifications MeSH