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Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease

OBJECTIVE: Fabry disease (FD) is a hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age and presents with other various neurological symptoms. Since FD is rare, limited information is currently available on the prevalence of neurological symp...

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Autores principales: Sawada, Jun, Nakagawa, Naoki, Kano, Kohei, Saito, Tsukasa, Katayama, Takayuki, Sawada, Takaaki, Momosaki, Ken, Nakamura, Kimitoshi, Hasebe, Naoyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263182/
https://www.ncbi.nlm.nih.gov/pubmed/33456042
http://dx.doi.org/10.2169/internalmedicine.6420-20
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author Sawada, Jun
Nakagawa, Naoki
Kano, Kohei
Saito, Tsukasa
Katayama, Takayuki
Sawada, Takaaki
Momosaki, Ken
Nakamura, Kimitoshi
Hasebe, Naoyuki
author_facet Sawada, Jun
Nakagawa, Naoki
Kano, Kohei
Saito, Tsukasa
Katayama, Takayuki
Sawada, Takaaki
Momosaki, Ken
Nakamura, Kimitoshi
Hasebe, Naoyuki
author_sort Sawada, Jun
collection PubMed
description OBJECTIVE: Fabry disease (FD) is a hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age and presents with other various neurological symptoms. Since FD is rare, limited information is currently available on the prevalence of neurological symptoms in Japanese patients with FD. Therefore, we examined the characteristics of neurological symptoms and brain magnetic resonance imaging (MRI) findings in adult Japanese patients with FD. METHODS: This was a retrospective, single-center study. We reviewed neurological symptoms and brain MRI findings in the medical records of 12 adult Japanese patients with FD diagnosed by a gene analysis of the α-galactosidase gene. RESULTS: Ten out of 12 patients with FD presented with the following neurological symptoms: acroparesthesia (n=6), headache (n=5) [migraine (n=4)], hypohidrosis (n=5), and cerebral infarction (n=3). Two and three of the patients with migraine were complicated by ischemic stroke and coronary spastic angina, respectively. Five and 10 patients presented with periventricular hyperintensity and deep white matter hyperintensity, respectively, on brain MRI. Two out of eight patients had cerebral microbleeds. Seven out of 11 patients had a dilated basilar artery diameter on magnetic resonance angiography. There were no patients with the pulvinar hyperintensity sign. CONCLUSION: Patients with FD present with various neurological symptoms. Headache, particularly migraine, might be a major neurological symptom in patients with FD. Since migraine, ischemic stroke, and coronary spastic angina might occur together in FD, caution is needed when administering triptan to FD patients with migraine.
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spelling pubmed-82631822021-07-12 Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease Sawada, Jun Nakagawa, Naoki Kano, Kohei Saito, Tsukasa Katayama, Takayuki Sawada, Takaaki Momosaki, Ken Nakamura, Kimitoshi Hasebe, Naoyuki Intern Med Original Article OBJECTIVE: Fabry disease (FD) is a hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age and presents with other various neurological symptoms. Since FD is rare, limited information is currently available on the prevalence of neurological symptoms in Japanese patients with FD. Therefore, we examined the characteristics of neurological symptoms and brain magnetic resonance imaging (MRI) findings in adult Japanese patients with FD. METHODS: This was a retrospective, single-center study. We reviewed neurological symptoms and brain MRI findings in the medical records of 12 adult Japanese patients with FD diagnosed by a gene analysis of the α-galactosidase gene. RESULTS: Ten out of 12 patients with FD presented with the following neurological symptoms: acroparesthesia (n=6), headache (n=5) [migraine (n=4)], hypohidrosis (n=5), and cerebral infarction (n=3). Two and three of the patients with migraine were complicated by ischemic stroke and coronary spastic angina, respectively. Five and 10 patients presented with periventricular hyperintensity and deep white matter hyperintensity, respectively, on brain MRI. Two out of eight patients had cerebral microbleeds. Seven out of 11 patients had a dilated basilar artery diameter on magnetic resonance angiography. There were no patients with the pulvinar hyperintensity sign. CONCLUSION: Patients with FD present with various neurological symptoms. Headache, particularly migraine, might be a major neurological symptom in patients with FD. Since migraine, ischemic stroke, and coronary spastic angina might occur together in FD, caution is needed when administering triptan to FD patients with migraine. The Japanese Society of Internal Medicine 2021-01-15 2021-06-15 /pmc/articles/PMC8263182/ /pubmed/33456042 http://dx.doi.org/10.2169/internalmedicine.6420-20 Text en Copyright © 2021 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Original Article
Sawada, Jun
Nakagawa, Naoki
Kano, Kohei
Saito, Tsukasa
Katayama, Takayuki
Sawada, Takaaki
Momosaki, Ken
Nakamura, Kimitoshi
Hasebe, Naoyuki
Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease
title Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease
title_full Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease
title_fullStr Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease
title_full_unstemmed Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease
title_short Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease
title_sort characteristics of neurological symptoms in adult japanese patients with fabry disease
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263182/
https://www.ncbi.nlm.nih.gov/pubmed/33456042
http://dx.doi.org/10.2169/internalmedicine.6420-20
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