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  1. Article: [RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].

    Miyatake, Satoko / Matsumoto, Naomichi

    Brain and nerve = Shinkei kenkyu no shinpo

    2022  Volume 74, Issue 11, Page(s) 1247–1256

    Abstract: Biallelic intronic repeat expansion in the RFC1 gene was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Its clinical features include late-onset cerebellar ataxia, sensory neuropathy (or neuronopathy), ...

    Abstract Biallelic intronic repeat expansion in the RFC1 gene was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Its clinical features include late-onset cerebellar ataxia, sensory neuropathy (or neuronopathy), bilateral vestibular impairment, autonomic dysfunction, chronic cough, pyramidal sign, or parkinsonism. Repeat conformations heterogeneity is observed along with the possible phenotype-genotype correlation while its molecular pathogenesis remains uncovered.
    MeSH term(s) Humans ; Bilateral Vestibulopathy/genetics ; Bilateral Vestibulopathy/diagnosis ; Cerebellar Ataxia/genetics ; Cerebellar Ataxia/diagnosis ; Peripheral Nervous System Diseases ; Syndrome ; Autonomic Nervous System Diseases
    Language Japanese
    Publishing date 2022-11-04
    Publishing country Japan
    Document type English Abstract ; Journal Article
    ZDB-ID 390389-8
    ISSN 1344-8129 ; 1881-6096 ; 0006-8969
    ISSN (online) 1344-8129
    ISSN 1881-6096 ; 0006-8969
    DOI 10.11477/mf.1416202223
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A Novel Mutation of VPS13D-related Disorders with Parkinsonism.

    Harada, Shizuka / Azuma, Yoshiteru / Misumi, Yohei / Hayashi, Hirotaka / Matsubara, Soichiro / Nakahara, Keiichi / Miyatake, Satoko / Matsumoto, Naomichi / Ueda, Mitsuharu

    Internal medicine (Tokyo, Japan)

    2024  

    Abstract: We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed ... ...

    Abstract We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, Parkinsonism, cerebellar ataxia, pyramidal signs, and autonomic dysfunction. Dopamine transporter single-photon-emission computed tomography showed a markedly reduced uptake in the striatum bilaterally. Whole-exome sequencing revealed a novel homozygous missense variant of the VPS13D gene (Arg3267Pro). Our case suggests that mutations in VPS13D may cause parkinsonism, in addition to the previously reported cerebellar ataxia and spastic paraplegia.
    Language English
    Publishing date 2024-02-19
    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.3101-23
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  3. Article ; Online: Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.

    Koshimizu, Eriko / Kato, Mitsuhiro / Misawa, Kazuharu / Uchiyama, Yuri / Tsuchida, Naomi / Hamanaka, Kohei / Fujita, Atsushi / Mizuguchi, Takeshi / Miyatake, Satoko / Matsumoto, Naomichi

    Journal of human genetics

    2024  Volume 69, Issue 3-4, Page(s) 153–157

    Abstract: Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathogenic DOPA decarboxylase (DDC) variants. We previously reported Japanese siblings with AADC deficiency, which was confirmed by the ... ...

    Abstract Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathogenic DOPA decarboxylase (DDC) variants. We previously reported Japanese siblings with AADC deficiency, which was confirmed by the lack of enzyme activity; however, only a heterozygous missense variant was detected. We therefore performed targeted long-read sequencing by adaptive sampling to identify any missing variants. Haplotype phasing and variant calling identified a novel deep intronic variant (c.714+255 C > A), which was predicted to potentially activate the noncanonical splicing acceptor site. Minigene assay revealed that wild-type and c.714+255 C > A alleles had different impacts on splicing. Three transcripts, including the canonical transcript, were detected from the wild-type allele, but only the noncanonical cryptic exon was produced from the variant allele, indicating that c.714+255 C > A was pathogenic. Target long-read sequencing may be used to detect hidden pathogenic variants in unresolved autosomal recessive cases with only one disclosed hit variant.
    MeSH term(s) Humans ; Dopa Decarboxylase/genetics ; Amino Acid Metabolism, Inborn Errors/genetics ; Introns ; Mutation, Missense ; Aromatic-L-Amino-Acid Decarboxylases/deficiency
    Chemical Substances Dopa Decarboxylase (EC 4.1.1.-) ; DDC protein, human (EC 4.1.1.28) ; Aromatic-L-Amino-Acid Decarboxylases (EC 4.1.1.28)
    Language English
    Publishing date 2024-01-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-023-01217-2
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  4. Article ; Online: [A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].

    Hara, Kenju / Ouchi, Haruka / Hamanaka, Kohei / Miyatake, Satoko / Matsumoto, Naomichi

    Rinsho shinkeigaku = Clinical neurology

    2022  Volume 62, Issue 11, Page(s) 856–859

    Abstract: The patient exhibited plantarflexion during walking at the age of five. He then developed writer's cramp at the age of six, dysphonia at 15 years, and action-induced dystonia with left knee elevation and trunk swinging when walking at 16 years, which ... ...

    Abstract The patient exhibited plantarflexion during walking at the age of five. He then developed writer's cramp at the age of six, dysphonia at 15 years, and action-induced dystonia with left knee elevation and trunk swinging when walking at 16 years, which subsequently spread to the right leg at 19 years. Levodopa therapy was ineffective for dystonia. Brain MRI showed no abnormalities. He was diagnosed with DYT28 after detecting a novel heterozygous mutation (c.433C>T, p.Arg145*) in the KMT2B gene using whole-exome sequencing at age 39. Furthermore, the patient's parents exhibited normal alleles, confirming the de novo status of KMT2B gene mutation. We should consider DYT28 in addition to DYT1 and DYT5 in patients who developed leg dystonia in childhood.
    MeSH term(s) Male ; Humans ; Adult ; Adolescent ; Dystonia/genetics ; Dystonia/diagnosis ; Histone-Lysine N-Methyltransferase/genetics ; Dystonic Disorders/genetics ; Mutation ; Alleles
    Chemical Substances Histone-Lysine N-Methyltransferase (EC 2.1.1.43) ; KMT2B protein, human (EC 2.1.1.43)
    Language Japanese
    Publishing date 2022-10-26
    Publishing country Japan
    Document type Case Reports ; English Abstract ; Journal Article
    ZDB-ID 604200-4
    ISSN 1882-0654 ; 0009-918X
    ISSN (online) 1882-0654
    ISSN 0009-918X
    DOI 10.5692/clinicalneurol.cn-001773
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  5. Article ; Online: FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.

    Matsushima, Masaaki / Yaguchi, Hiroaki / Koshimizu, Eriko / Kudo, Akihiko / Shirai, Shinichi / Matsuoka, Takeshi / Ura, Shigehisa / Kawashima, Atsushi / Fukazawa, Toshiyuki / Miyatake, Satoko / Matsumoto, Naomichi / Yabe, Ichiro

    Journal of neurology

    2024  

    Language English
    Publishing date 2024-03-12
    Publishing country Germany
    Document type Letter
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-024-12308-1
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  6. Article ; Online: Case series: Downbeat nystagmus in SCA27B.

    Shirai, Shinichi / Mizushima, Keiichi / Fujiwara, Keishi / Koshimizu, Eriko / Matsushima, Masaaki / Miyatake, Satoko / Iwata, Ikuko / Yaguchi, Hiroaki / Matsumoto, Naomichi / Yabe, Ichiro

    Journal of the neurological sciences

    2023  Volume 454, Page(s) 120849

    Abstract: Background: Spinocerebellar ataxia (SCA) 27B, first reported in late 2022, is caused by the abnormal expansion of GAA repeats in the first intron of the FGF14 gene, which encodes the fibroblast growth factor 14.: Case presentation: We present two ... ...

    Abstract Background: Spinocerebellar ataxia (SCA) 27B, first reported in late 2022, is caused by the abnormal expansion of GAA repeats in the first intron of the FGF14 gene, which encodes the fibroblast growth factor 14.
    Case presentation: We present two late-onset cases, each manifesting mild cerebellar ataxia accompanied by omnidirectional downbeat nystagmus, which was enhanced in a suspended head position. None of the patients exhibited impaired head impulse or caloric tests. Repeat-primed PCR and targeted long-read nanopore sequence analysis of the FGF14 GAA repeat site identified more than 250 repeats, leading to the diagnosis of SCA27B.
    Discussion: Downbeat nystagmus is reported to be associated with disturbances in the suppression of the vestibulo-ocular reflex (VOR). Our patients with SCA27B demonstrated downbeat nystagmus, likely due to a disruption of the VOR at the level of the cerebellar cortex, a potentially characteristic clinical feature of SCA27B. We have included video footages of eye movements recorded using Frenzel goggles for these cases.
    Conclusions: Omnidirectional downbeat nystagmus may be a distinctive clinical feature of SCA27B.
    MeSH term(s) Humans ; Nystagmus, Pathologic/genetics ; Nystagmus, Pathologic/complications ; Eye Movements ; Reflex, Vestibulo-Ocular ; Cerebellum ; Spinocerebellar Ataxias/complications ; Spinocerebellar Ataxias/genetics
    Language English
    Publishing date 2023-10-27
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    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.2023.120849
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  7. Article ; Online: Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan.

    Mizushima, Keiichi / Shibata, Yuka / Shirai, Shinichi / Matsushima, Masaaki / Miyatake, Satoko / Iwata, Ikuko / Yaguchi, Hiroaki / Matsumoto, Naomichi / Yabe, Ichiro

    Journal of human genetics

    2023  Volume 69, Issue 1, Page(s) 27–31

    Abstract: In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is autosomal dominant SCD (AD-SCD). We have previously reported the types of AD-SCD in Hokkaido, twice. In this study, we investigated ... ...

    Abstract In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is autosomal dominant SCD (AD-SCD). We have previously reported the types of AD-SCD in Hokkaido, twice. In this study, we investigated the status of AD-SCD mainly due to repeat expansions, covering the period since the last report. We performed genetic analysis for 312 patients with a clinical diagnosis of SCD, except for multiple system atrophy at medical institutions in Hokkaido between January 2007 and December 2020. The median age at the time of analysis was 58 (1-86) years. Pathogenic variants causing AD-SCD due to repeat expansion were found in 61.5% (192 cases). Spinocerebellar ataxia (SCA) 6 was the most common type in 25.3% (79 cases), followed by Machado-Joseph disease (MJD)/SCA3 in 13.8% (43), SCA1 in 6.4% (20), SCA2 in 5.1% (16), SCA31 in 4.8% (15), dentatorubral-pallidoluysian atrophy in 4.8% (15), SCA7 in 0.6% (2), and SCA8 in 0.6% (2). SCA17, 27B, 36, and 37 were not found. Compared to previous reports, this study found a higher prevalence of SCA6 and a lower prevalence of MJD/SCA3. An increasing number of cases identified by genetic testing, including cases with no apparent family history, accurately revealed the distribution of disease types in Hokkaido.
    MeSH term(s) Humans ; Middle Aged ; Aged ; Aged, 80 and over ; Japan/epidemiology ; Prevalence ; Spinocerebellar Ataxias/epidemiology ; Spinocerebellar Ataxias/genetics ; Spinocerebellar Degenerations/epidemiology ; Spinocerebellar Degenerations/genetics ; Genetic Testing
    Language English
    Publishing date 2023-10-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-023-01200-x
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  8. Article ; Online: A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.

    Ohashi, Takuma / Kunimoto, Hiroyoshi / Nukui, Jun / Teshigawara, Haruka / Koyama, Satoshi / Miyazaki, Takuya / Hagihara, Maki / Matsumoto, Kenji / Koshimizu, Eriko / Tsuchida, Naomi / Hamanoue, Haruka / Miyatake, Satoko / Yachie, Akihiro / Matsumoto, Naomichi / Nakajima, Hideaki

    International journal of hematology

    2024  

    Abstract: Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. BS is characterized by distinct facial features, elongated limbs, and various dermatological complications including photosensitivity, poikiloderma, and ... ...

    Abstract Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. BS is characterized by distinct facial features, elongated limbs, and various dermatological complications including photosensitivity, poikiloderma, and telangiectatic erythema. The BLM gene encodes a RecQ helicase critical for genome maintenance, stability, and repair, and a deficiency in functional BLM protein leads to genomic instability and high predisposition to various types of cancers, particularly hematological and gastrointestinal malignancies. Here, we report a case of BS with a previously unreported variant in the BLM gene. The patient was a 34-year-old woman who presented with short stature, prominent facial features, and a history of malignancies, including lymphoma, breast cancer, and myelodysplastic syndromes (MDS). She was initially treated with azacitidine for MDS and showed transient improvement, but eventually died at age of 35 due to progression of MDS. Genetic screening revealed compound heterozygous variants in the BLM gene, with a recurrent variant previously reported in BS in one allele and a previously unreported variant in the other allele. Based on her characteristic clinical features and the presence of heterozygous variants in the BLM gene, she was diagnosed with BS harboring compound heterozygous BLM variants.
    Language English
    Publishing date 2024-03-15
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 1076875-0
    ISSN 1865-3774 ; 0917-1258 ; 0925-5710
    ISSN (online) 1865-3774
    ISSN 0917-1258 ; 0925-5710
    DOI 10.1007/s12185-024-03751-x
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  9. Article: Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with

    Ogasawara, Masashi / Nakagawa, Eiji / Takeshita, Eri / Hamanaka, Kohei / Miyatake, Satoko / Matsumoto, Naomichi / Sasaki, Masayuki

    Molecular syndromology

    2020  Volume 11, Issue 4, Page(s) 232–237

    Abstract: ... ...

    Abstract The
    Language English
    Publishing date 2020-09-01
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000510172
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  10. Article ; Online: Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.

    Sakamoto, Masamune / Shiiki, Toshihide / Matsui, Shuji / Okamoto, Nobuhiko / Koshimizu, Eriko / Tsuchida, Naomi / Uchiyama, Yuri / Hamanaka, Kohei / Fujita, Atsushi / Miyatake, Satoko / Misawa, Kazuharu / Mizuguchi, Takeshi / Matsumoto, Naomichi

    Journal of human genetics

    2023  Volume 68, Issue 4, Page(s) 299

    Language English
    Publishing date 2023-01-22
    Publishing country England
    Document type Published Erratum
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-023-01125-5
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