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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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February 2003 Volume 11 Issue 2

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International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

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Article

A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene

  • Authors:
    • Hiroyuki Hirose
    • Takashi Arayama
    • Junko Takita
    • Takashi Igarashi
    • Yasuhide Hayashi
    • Yoshiro Nagao

  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, University of Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan
  • Pages: 187-189
    |
    Published online on: February 1, 2003
       https://doi.org/10.3892/ijmm.11.2.187
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Abstract

Episodic ataxia type 2 (EA2) has been reported to result from mutations in the CACNA1A gene, located on chromosome 19p13. We describe a family with episodic ataxia, clinically indistinguishable from EA2, that was not caused by CACNA1A gene mutation. The proband is an 11-year-old boy, who has had 6 cerebellar ataxic attacks since 8 years of age. His attacks occurred almost monthly, lasting for 2 to 3 days. He was treated successfully with acetazolamide. His identical twin, mother and grandmother developed ataxic attacks at age 10, 34, and 50, respectively. The symptoms in his grandmother improved gradually without medication. His mother and identical twin took acetazolamide with a good response. We examined the CACNA1A gene for this family but did not detect any mutations. Furthermore, there was no evidence of genetic linkage between the CACNA1A gene and the symptomatic patients in this family. This suggests that the cause of EA2 can be heterogeneous, that is, defects of genes other than CACNA1A might be the cause of EA2.

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Copy and paste a formatted citation
Spandidos Publications style
Hirose H, Arayama T, Takita J, Igarashi T, Hayashi Y and Nagao Y: A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene. Int J Mol Med 11: 187-189, 2003.
APA
Hirose, H., Arayama, T., Takita, J., Igarashi, T., Hayashi, Y., & Nagao, Y. (2003). A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene. International Journal of Molecular Medicine, 11, 187-189. https://doi.org/10.3892/ijmm.11.2.187
MLA
Hirose, H., Arayama, T., Takita, J., Igarashi, T., Hayashi, Y., Nagao, Y."A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene". International Journal of Molecular Medicine 11.2 (2003): 187-189.
Chicago
Hirose, H., Arayama, T., Takita, J., Igarashi, T., Hayashi, Y., Nagao, Y."A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene". International Journal of Molecular Medicine 11, no. 2 (2003): 187-189. https://doi.org/10.3892/ijmm.11.2.187
Copy and paste a formatted citation
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Spandidos Publications style
Hirose H, Arayama T, Takita J, Igarashi T, Hayashi Y and Nagao Y: A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene. Int J Mol Med 11: 187-189, 2003.
APA
Hirose, H., Arayama, T., Takita, J., Igarashi, T., Hayashi, Y., & Nagao, Y. (2003). A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene. International Journal of Molecular Medicine, 11, 187-189. https://doi.org/10.3892/ijmm.11.2.187
MLA
Hirose, H., Arayama, T., Takita, J., Igarashi, T., Hayashi, Y., Nagao, Y."A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene". International Journal of Molecular Medicine 11.2 (2003): 187-189.
Chicago
Hirose, H., Arayama, T., Takita, J., Igarashi, T., Hayashi, Y., Nagao, Y."A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene". International Journal of Molecular Medicine 11, no. 2 (2003): 187-189. https://doi.org/10.3892/ijmm.11.2.187
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