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Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
OBJECTIVE: To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. METHODS: Clinical assessments, targeted genetic studies, neuroimaging with MRI, [(18)F]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with (123)I FP-CIT (DaTscan) SPEC...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217656/ https://www.ncbi.nlm.nih.gov/pubmed/32494755 http://dx.doi.org/10.1212/NXG.0000000000000426 |
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author | Niemelä, Valter Salih, Ammar Solea, Daniela Lindvall, Björn Weinberg, Jan Miltenberger, Gabriel Granberg, Tobias Tzovla, Aikaterini Nordin, Love Danfors, Torsten Savitcheva, Irina Dahl, Niklas Paucar, Martin |
author_facet | Niemelä, Valter Salih, Ammar Solea, Daniela Lindvall, Björn Weinberg, Jan Miltenberger, Gabriel Granberg, Tobias Tzovla, Aikaterini Nordin, Love Danfors, Torsten Savitcheva, Irina Dahl, Niklas Paucar, Martin |
author_sort | Niemelä, Valter |
collection | PubMed |
description | OBJECTIVE: To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. METHODS: Clinical assessments, targeted genetic studies, neuroimaging with MRI, [(18)F]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with (123)I FP-CIT (DaTscan) SPECT. One patient underwent magnetic resonance spectroscopy (MRS). RESULTS: Four patients living in Sweden but with different ethnical backgrounds were included. Their clinical features were variable. Biallelic VPS13A mutations were confirmed in all patients, including 3 novel mutations. All tested patients had either low or absent chorein levels. One patient had progressive caudate atrophy. Investigation using FDG-PET revealed severe bilateral striatal hypometabolism, and DaTscan SPECT displayed presynaptic dopaminergic deficiency in 3 patients. MRS demonstrated reduced N-acetylaspartate/creatine (Cr) ratio and mild elevation of both choline/Cr and combined glutamate and glutamine/Cr in the striatum in 1 case. One patient died during sleep, and another was treated with deep brain stimulation, which transiently attenuated feeding dystonia but not his gait disorder or chorea. CONCLUSIONS: Larger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc. |
format | Online Article Text |
id | pubmed-7217656 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
spelling | pubmed-72176562020-06-02 Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations Niemelä, Valter Salih, Ammar Solea, Daniela Lindvall, Björn Weinberg, Jan Miltenberger, Gabriel Granberg, Tobias Tzovla, Aikaterini Nordin, Love Danfors, Torsten Savitcheva, Irina Dahl, Niklas Paucar, Martin Neurol Genet Article OBJECTIVE: To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. METHODS: Clinical assessments, targeted genetic studies, neuroimaging with MRI, [(18)F]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with (123)I FP-CIT (DaTscan) SPECT. One patient underwent magnetic resonance spectroscopy (MRS). RESULTS: Four patients living in Sweden but with different ethnical backgrounds were included. Their clinical features were variable. Biallelic VPS13A mutations were confirmed in all patients, including 3 novel mutations. All tested patients had either low or absent chorein levels. One patient had progressive caudate atrophy. Investigation using FDG-PET revealed severe bilateral striatal hypometabolism, and DaTscan SPECT displayed presynaptic dopaminergic deficiency in 3 patients. MRS demonstrated reduced N-acetylaspartate/creatine (Cr) ratio and mild elevation of both choline/Cr and combined glutamate and glutamine/Cr in the striatum in 1 case. One patient died during sleep, and another was treated with deep brain stimulation, which transiently attenuated feeding dystonia but not his gait disorder or chorea. CONCLUSIONS: Larger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc. Wolters Kluwer 2020-04-27 /pmc/articles/PMC7217656/ /pubmed/32494755 http://dx.doi.org/10.1212/NXG.0000000000000426 Text en Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
spellingShingle | Article Niemelä, Valter Salih, Ammar Solea, Daniela Lindvall, Björn Weinberg, Jan Miltenberger, Gabriel Granberg, Tobias Tzovla, Aikaterini Nordin, Love Danfors, Torsten Savitcheva, Irina Dahl, Niklas Paucar, Martin Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations |
title | Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations |
title_full | Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations |
title_fullStr | Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations |
title_full_unstemmed | Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations |
title_short | Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations |
title_sort | phenotypic variability in chorea-acanthocytosis associated with novel vps13a mutations |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217656/ https://www.ncbi.nlm.nih.gov/pubmed/32494755 http://dx.doi.org/10.1212/NXG.0000000000000426 |
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