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Article ; Online: An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication.

Takegami, Naoki / Hamada, Masashi / Yamaguchi-Takegami, Nanaka / Sakuishi, Kaori / Toda, Tatsushi

2023 Volume 63, Issue 2, Page(s) 315–318

Abstract: Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain ... ...

Abstract	Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with motor symptoms manifesting late in life. Her pain and hearing loss may have been related to CMT. Our case also raises the possibility that neuropathic pain and hearing loss may precede the classic motor symptoms of CMT1A.
MeSH term(s)	Female ; Humans ; Aged ; Charcot-Marie-Tooth Disease/complications ; Charcot-Marie-Tooth Disease/diagnosis ; Charcot-Marie-Tooth Disease/genetics ; Hereditary Sensory and Motor Neuropathy ; Hearing Loss/etiology ; Hearing Loss/genetics ; Deafness ; Pain ; Myelin Proteins/genetics
Chemical Substances	PMP22 protein, human ; Myelin Proteins
Language	English
Publishing date	2023-05-24
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.1883-23
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Article ; Online: Anti-Lactosylceramide antibody positive combined central peripheral demyelination emerging from long-standing juvenile-onset chronic inflammatory polyradiculoneuropathy; a report of two cases.

Takegami, Naoki / Sakuishi, Kaori / Yamaguchi-Takegami, Nanaka / Egashira, Shuhei / Komaki, Shogo / Mutoh, Tatsuro / Toda, Tatsushi

Journal of neuroimmunology

2023 Volume 378, Page(s) 578086

Abstract: Anti-Lactosylceramide (LacCer) antibodies are associated with neurological inflammation involving both the peripheral and central nervous system (PNS, CNS respectively), however, the documented number of cases is small. Uncertainty remains whether its ... ...

Abstract	Anti-Lactosylceramide (LacCer) antibodies are associated with neurological inflammation involving both the peripheral and central nervous system (PNS, CNS respectively), however, the documented number of cases is small. Uncertainty remains whether its positivity can identify a unique clinical entity. Here, we describe two anti-LacCer antibody positive cases, both with long histories (> 30 years) of teenage-diagnosed chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). CNS lesions including the medulla oblongata were observed for the first time in adulthood. We suggest that this secondary progression of CNS lesions in juvenile-onset CIDP can be one of the characteristic features of anti-LacCer antibody associated neurological disorder.
MeSH term(s)	Adolescent ; Humans ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis ; Inflammation ; Central Nervous System ; Polyradiculoneuropathy
Language	English
Publishing date	2023-04-11
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	8335-5
ISSN	1872-8421 ; 0165-5728
ISSN (online)	1872-8421
ISSN	0165-5728
DOI	10.1016/j.jneuroim.2023.578086
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Article ; Online: Rare Co-occurrence of Spinal Cord Hemorrhage from Radiation-induced Cavernous Hemangioma and Classical Hodgkin Lymphoma Post-transplant Lymphoproliferative Disorder.

Shimizu, Takahiro / Nagashima, Yu / Matsukawa, Takashi / Mitsutake, Akihiko / Kawai, Mizuho / Horiuchi, Yurino / Yokoyama, Keishi / Takaoka, Kensuke / Kurihara, Yuya / Toyama, Kazuhiro / Sakuishi, Kaori / Kurokawa, Mineo / Toda, Tatsushi

Internal medicine (Tokyo, Japan)

2024

Abstract: Post-transplant lymphoproliferative disorders (PTLDs) are lymphoproliferative diseases that occur after solid organ transplantation or hematopoietic stem cell transplantation (HSCT). The development of PTLD is often associated with reactivation of ... ...

Abstract	Post-transplant lymphoproliferative disorders (PTLDs) are lymphoproliferative diseases that occur after solid organ transplantation or hematopoietic stem cell transplantation (HSCT). The development of PTLD is often associated with reactivation of Epstein-Barr virus (EBV). A 26-year-old woman with a history of HSCT and total-body irradiation developed spinal cord hemorrhage from a radiation-induced cavernous hemangioma (RICH) shortly after the development of classical Hodgkin lymphoma PTLD with EBV reactivation. Although little is known about the factors leading to hemorrhagic events from spinal cord RICH, we suspect that EBV reactivation may have been a factor contributing to the hemorrhage in the present case.
Language	English
Publishing date	2024-02-26
Publishing country	Japan
Document type	Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.2898-23
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Article ; Online: Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.

Yamaguchi-Takegami, Nanaka / Takahashi, Akiko / Mitsui, Jun / Sugiyama, Yusuke / Chikada, Ayaka / Porto, Kristine Joyce L / Takegami, Naoki / Sakuishi, Kaori / Ishiura, Hiroyuki / Yamada, Kaoru / Shimizu, Jun / Tsuji, Shoji / Toda, Tatsushi

Internal medicine (Tokyo, Japan)

2023 Volume 63, Issue 6, Page(s) 861–865

Abstract: We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological ... ...

Abstract	We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.
MeSH term(s)	Aged ; Female ; Humans ; Enzyme Replacement Therapy ; Gaucher Disease/complications ; Gaucher Disease/diagnosis ; Gaucher Disease/drug therapy ; Glucosylceramidase/therapeutic use ; Long-Term Care ; Seizures/etiology
Chemical Substances	Glucosylceramidase (EC 3.2.1.45)
Language	English
Publishing date	2023-08-09
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.1699-23
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Article ; Online: Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.

Takegami, Naoki / Matsukawa, Takashi / Hamada, Masashi / Tanifuji, Shuichi / Tamura, Takayuki / Yamaguchi-Takegami, Nanaka / Ishiura, Hiroyuki / Mitsui, Jun / Sakuishi, Kaori / Tsuji, Shoji / Toda, Tatsushi

Internal medicine (Tokyo, Japan)

2023 Volume 63, Issue 7, Page(s) 999–1004

Abstract: Adrenomyeloneuropathy (AMN)/adrenoleukodystrophy (ALD) is an X-linked genetic disorder caused by pathogenic variants in ABCD1. We treated a 54-year-old man with slowly progressive spastic paraparesis with later development of the cerebral form. A ... ...

Abstract	Adrenomyeloneuropathy (AMN)/adrenoleukodystrophy (ALD) is an X-linked genetic disorder caused by pathogenic variants in ABCD1. We treated a 54-year-old man with slowly progressive spastic paraparesis with later development of the cerebral form. A pathogenic splice-site variant of ABCD1 (c.1489-1G>A, p.Val497Alafs*51) and elevated levels of very long-chain fatty acids were found, leading to the diagnosis of AMN. Detailed ABCD1 mRNA expression analyses revealed decreased levels of ABCD1 mRNA accompanied by deletion of the first 31 bp in exon 6. The altered mRNA transcriptional patterns associated with splice site variants are diverse and may provide important insights into ALD pathogenesis.
MeSH term(s)	Male ; Humans ; Middle Aged ; Adrenoleukodystrophy/genetics ; Adrenoleukodystrophy/diagnosis ; Adrenoleukodystrophy/metabolism ; Pedigree ; RNA, Messenger/genetics ; ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics
Chemical Substances	RNA, Messenger ; ABCD1 protein, human ; ATP Binding Cassette Transporter, Subfamily D, Member 1
Language	English
Publishing date	2023-08-09
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.2240-23
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Article ; Online: Long-term survival from progressive multifocal leukoencephalopathy in living-donor liver transplant recipient with preformed donor-specific antibody.

Egashira, Shuhei / Kubota, Akatsuki / Kakumoto, Toshiyuki / Kawasaki, Reiko / Kotani, Risa / Sakuishi, Kaori / Iwata, Atsushi / Bae, Sung Kwan / Akamatsu, Nobuhisa / Hasegawa, Kiyoshi / Tanaka, Mariko / Nakamichi, Kazuo / Saijo, Masayuki / Toda, Tatsushi

Journal of neurovirology

2023 Volume 29, Issue 5, Page(s) 519–523

Abstract: Intensive immunosuppression has enabled liver transplantation even in recipients with preformed donor-specific antibodies (DSA), an independent risk factor for graft rejection. However, these recipients may also be at high risk of progressive multifocal ... ...

Abstract	Intensive immunosuppression has enabled liver transplantation even in recipients with preformed donor-specific antibodies (DSA), an independent risk factor for graft rejection. However, these recipients may also be at high risk of progressive multifocal encephalopathy (PML) due to the comorbid immunosuppressed status. A 58-year-old woman presented with self-limited focal-to-bilateral tonic-clonic seizures 9 months after liver transplantation. She was desensitized using rituximab and plasma exchange before transplantation and was subsequently treated with steroids, tacrolimus, and everolimus after transplantation for her preformed DSA. Neurological examination revealed mild acalculia and agraphia. Cranial MRI showed asymmetric, cortex-sparing white matter lesions that increased over a week in the left frontal, left parietal, and right parieto-occipital lobes. Polymerase chain reaction (PCR) of the cerebrospinal fluid for the JC supported the diagnosis of PML. Immune reconstitution by reducing the immunosuppressant dose stopped lesion expansion, and PCR of the cerebrospinal fluid for the JC virus became negative. Graft rejection occurred 2 months after immune reconstitution, requiring readjustment of immunosuppressants. Forty-eight months after PML onset, the patient lived at home without disabling deficits. Intensive immunosuppression may predispose recipients to PML after liver transplantation with preformed DSA. Early immune reconstitution and careful monitoring of graft rejection may help improve outcomes.
MeSH term(s)	Humans ; Female ; Middle Aged ; Leukoencephalopathy, Progressive Multifocal ; Liver Transplantation/adverse effects ; Living Donors ; JC Virus/genetics ; Immunosuppressive Agents/therapeutic use
Chemical Substances	Immunosuppressive Agents
Language	English
Publishing date	2023-09-05
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1283265-0
ISSN	1538-2443 ; 1355-0284
ISSN (online)	1538-2443
ISSN	1355-0284
DOI	10.1007/s13365-023-01171-x
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Zs.A 4426: Show issues

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Article ; Online: Isolated seizure as initial presentation of GABA

Kurihara, Masanori / Sasaki, Takuya / Sakuishi, Kaori / Terao, Yasuo / Murakawa, Tomohiro / Shinozaki-Ushiku, Aya / Okada, Satoshi / Toda, Tatsushi / Tsuji, Shoji

Journal of the neurological sciences

2020 Volume 410, Page(s) 116666

MeSH term(s)	Autoantibodies ; Encephalitis/complications ; Humans ; Receptors, GABA-A/immunology ; Seizures/etiology ; Thymoma ; Thymus Neoplasms
Chemical Substances	Autoantibodies ; Receptors, GABA-A
Language	English
Publishing date	2020-01-03
Publishing country	Netherlands
Document type	Case Reports ; Letter
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2020.116666
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Article ; Online: The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.

Takegami, Naoki / Mitsutake, Akihiko / Mano, Tatsuo / Shintani-Domoto, Yukako / Unuma, Atsushi / Yamaguchi-Takegami, Nanaka / Ishiura, Hiroyuki / Sakuishi, Kaori / Ando, Masahiko / Yamauchi, Haruo / Ono, Minoru / Morishita, Shinichi / Mitsui, Jun / Shimizu, Jun / Tsuji, Shoji / Toda, Tatsushi

Internal medicine (Tokyo, Japan)

2023 Volume 62, Issue 19, Page(s) 2883–2887

Abstract: Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein ... ...

Abstract	Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed weakness in the soft palate and extremities. The myocardial tissue dissected during implantation of the ventricular-assisted device showed a dilated phase of hypertrophic cardiomyopathy and intracellular accumulation of proteinase K-resistant desmin aggregates. Genetic testing confirmed a de novo mutation of DES, which has already been linked to desminopathy. As the molecular diagnosis of desminopathy is challenging, particularly if patients show predominantly cardiac signs and a routine skeletal muscle biopsy is unavailable, these characteristic pathological findings of endomyocardial proteinase K-resistant desmin aggregates might aid in clinical practice.
MeSH term(s)	Male ; Humans ; Child ; Adult ; Desmin/genetics ; Desmin/metabolism ; Cardiomyopathies/diagnosis ; Cardiomyopathies/genetics ; Cardiomyopathies/pathology ; Endopeptidase K/genetics ; Mutation/genetics ; Myopathies, Structural, Congenital ; Cardiomyopathy, Hypertrophic
Chemical Substances	Desmin ; Endopeptidase K (EC 3.4.21.64)
Language	English
Publishing date	2023-02-15
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.0992-22
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Article ; Online: Expanded clinical spectrum of oculopharyngodistal myopathy type 1.

Shimizu, Takahiro / Ishiura, Hiroyuki / Hara, Manato / Shibata, Shota / Unuma, Atsushi / Kubota, Akatsuki / Sakuishi, Kaori / Inoue, Kiyoharu / Goto, Jun / Takahashi, Yuji / Shirota, Yuichiro / Hamada, Masashi / Shimizu, Jun / Tsuji, Shoji / Toda, Tatsushi

Muscle & nerve

2022 Volume 66, Issue 6, Page(s) 679–685

Abstract: Introduction/aims: Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a cause of oculopharyngodistal myopathy (OPDM), and the disease is designated as OPDM type 1 (OPDM1). ... ...

Abstract	Introduction/aims: Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a cause of oculopharyngodistal myopathy (OPDM), and the disease is designated as OPDM type 1 (OPDM1). In contrast to broadening of our knowledge on the genetic background of OPDM, what we know of the clinical phenotype of genetically confirmed OPDM1 remains limited. Methods: This investigation was a single-center case series study of OPDM consisting of ten patients from seven families. Repeat-primed polymerase chain reaction and Southern blot analyses were performed to confirm the CGG repeat expansions in LRP12. Clinical findings were retrospectively reviewed. Results: Seven patients from five families were identified as having CGG repeat expansions in LRP12. We found a high prevalence of axial muscle involvement, such as neck muscle weakness (6/7) and fatty infiltration in the rectus abdominis muscle, as revealed by computed tomography (5/5). We identified patients with very subtle oculopharyngeal symptoms, mimicking isolated distal myopathy. Muscle specimens were collected from the biceps brachii and tibialis anterior muscles of three patients. Myopathic changes were more severe with more atrophic fibers forming clusters in the tibialis anterior than the biceps brachii muscles of these three patients. No rimmed vacuoles were observed in the biceps brachii muscles in two of the three patients. Discussion: This study shows the expanded clinical spectrum of OPDM1, highlighting the importance of axial muscle evaluation in OPDM1. Considering patients with very subtle oculopharyngeal symptoms, genetic analysis of LRP12 should be considered in patients with isolated distal myopathy.
MeSH term(s)	Humans ; Distal Myopathies ; Retrospective Studies ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Muscle, Skeletal
Language	English
Publishing date	2022-09-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.27717
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Article ; Online: Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases.

Kurihara, Masanori / Sugiyama, Yusuke / Tanaka, Masaki / Sato, Kenichiro / Mitsutake, Akihiko / Ishiura, Hiroyuki / Kubota, Akatsuki / Sakuishi, Kaori / Hayashi, Toshihiro / Iwata, Atsushi / Shimizu, Jun / Murayama, Kei / Tsuji, Shoji / Toda, Tatsushi

Internal medicine (Tokyo, Japan)

2021 Volume 61, Issue 13, Page(s) 1939–1946

Abstract: Objective Although aerobic exercise tests on cycle ergometry have long been used for initial assessments of cases of suspected mitochondrial disease, the test parameters in patients with final diagnoses of other diseases via the widely used 15 W for 15 ... ...

Abstract	Objective Although aerobic exercise tests on cycle ergometry have long been used for initial assessments of cases of suspected mitochondrial disease, the test parameters in patients with final diagnoses of other diseases via the widely used 15 W for 15 minutes exercise protocol have not been fully characterized. Methods We retrospectively reviewed all patients who underwent the test at our institution. We classified the patients with genetic diagnoses or those who met previously reported clinical criteria as having mitochondrial diseases and those with a final diagnosis of another disease as having other diseases. Results were available from 6 patients with mitochondrial disease and 15 with other diseases. Results During the test, elevated venous peak lactate above the upper normal limit of healthy controls at rest [19.2 mg/dL (2.13 mM)] was observed in 3 patients with mitochondrial diseases (50.0%) and 5 with other diseases (33.3%). In the group of patients with elevated venous peak lactate, a lactate-to-pyruvate ratio of >20 was observed in all 3 patients with mitochondrial disease but in only 1 of the 5 with other diseases. More than a 2-fold increase in venous lactate from baseline was observed in 4 patients with mitochondrial disease (66.7%) and 1 with another disease (6.7%). Conclusion Elevated venous peak lactate levels were observed in patients with final diagnoses of other diseases, even under a low 15-minute workload at 15 W. The lactate-to-pyruvate ratio and increase in lactate level from baseline may add diagnostic value to venous peak lactate levels alone.
MeSH term(s)	Exercise ; Exercise Test/methods ; Humans ; Lactic Acid ; Mitochondrial Diseases/diagnosis ; Pyruvates ; Retrospective Studies
Chemical Substances	Pyruvates ; Lactic Acid (33X04XA5AT)
Language	English
Publishing date	2021-11-27
Publishing country	Japan
Document type	Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.8629-21
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