A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte
© 2023. Fondazione Società Italiana di Neurologia..
Chorea-acanthocytosis (ChAc) is a rare clinical genetic disorder of the nervous system, which is characterized by choreiform movement disorder, cognitive decline, and psychiatric disorders. ChAc is mostly diagnosed based on its typical clinical manifestations and the increased number of acanthocytes in peripheral blood smears. Here, we report a patient, who has the characteristic clinical manifestations of ChAc with limb choreiform movements, involuntary lip and tongue bites, seizures, and emotional instability. However, her blood smear was negative for acanthocytes with scanning electron microscopy. We later identified two novel pathogenic mutations in the patient's vacuolar protein sorting homolog 13 A (VPS13A) on chromosome 9q21 by targeted gene sequencing, and she was definitively diagnosed with "ChAc." After treatment with carbamazepine, haloperidol, the patient's symptoms gradually improved. We consider that an acanthocyte negative blood smear cannot rule out ChAC diagnosis, and genetic testing is the "gold standard" for the diagnosis. Through a review of previous research, it is rare for a patient to have a clear diagnosis of ChAc by genetic testing, but whose blood smear is negative for acanthocytes with electron microscopy. In addition, in this report, we discovered two novel pathogenic mutations, which have not been reported previously, and extended the genetic characteristics of ChAc.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:45 |
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| Enthalten in: |
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 45(2024), 5 vom: 16. Apr., Seite 2057-2061 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Jin, Shan [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Completed 17.04.2024 Date Revised 17.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1007/s10072-023-07174-0 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM364770260 |
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| 100 | 1 | |a Jin, Shan |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte |
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2023. Fondazione Società Italiana di Neurologia. | ||
| 520 | |a Chorea-acanthocytosis (ChAc) is a rare clinical genetic disorder of the nervous system, which is characterized by choreiform movement disorder, cognitive decline, and psychiatric disorders. ChAc is mostly diagnosed based on its typical clinical manifestations and the increased number of acanthocytes in peripheral blood smears. Here, we report a patient, who has the characteristic clinical manifestations of ChAc with limb choreiform movements, involuntary lip and tongue bites, seizures, and emotional instability. However, her blood smear was negative for acanthocytes with scanning electron microscopy. We later identified two novel pathogenic mutations in the patient's vacuolar protein sorting homolog 13 A (VPS13A) on chromosome 9q21 by targeted gene sequencing, and she was definitively diagnosed with "ChAc." After treatment with carbamazepine, haloperidol, the patient's symptoms gradually improved. We consider that an acanthocyte negative blood smear cannot rule out ChAC diagnosis, and genetic testing is the "gold standard" for the diagnosis. Through a review of previous research, it is rare for a patient to have a clear diagnosis of ChAc by genetic testing, but whose blood smear is negative for acanthocytes with electron microscopy. In addition, in this report, we discovered two novel pathogenic mutations, which have not been reported previously, and extended the genetic characteristics of ChAc | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a VPS13A gene | |
| 650 | 4 | |a Chorea-acanthocytosis | |
| 650 | 4 | |a Novel pathogenic mutation | |
| 650 | 4 | |a Targeted gene sequencing | |
| 650 | 7 | |a VPS13A protein, human |2 NLM | |
| 650 | 7 | |a Vesicular Transport Proteins |2 NLM | |
| 700 | 1 | |a Sun, Zhengzhe |e verfasserin |4 aut | |
| 700 | 1 | |a Fang, Xiang |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Huaizhen |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Wenming |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Shan |e verfasserin |4 aut | |
| 700 | 1 | |a Fan, Jinwei |e verfasserin |4 aut | |
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