The Cerebella and Peripheral Nerves Symptoms of Patients with Ataxia-Oculomotor Apraxia Type 1 (Aprataxin Gene Frameshift 689 insT Mutation)

• HORIMOTO Yoshitaka

  Division of Physical Therapy, Department of Rehabilitation Sciences, Faculty of Health Care Sciences, Chiba Prefectural University of Health Sciences

• KIKUCHI Shin

  Department of Anatomy Ⅰ, School of Medicine, Sapporo Medical University

• OSUDA Yusuke

  Department of Rehabilitation, Nishi Otaru Hospital

• TACHI Nobutada

  Department of Occupational Therapy, School of Health Sciences, Sapporo Medical University

• KOZUKA Naoki

  Department of Physical Therapy, School of Health Sciences, Sapporo Medical University

Bibliographic Information

Other Title

• Aprataxin遺伝子変異（689insT）が認められた眼球運動失行を伴う失調症（Ataxia-oculomotor apraxia; AOA1）患者の臨床症状

Abstract

Purpose: Ataxia-oculomotor apraxia type 1 (AOA1) is responsible for the mutation of aprataxin gene. The aprataxin gene, located on chromosome 9p13.3, has seven exons. Alternative splicing in exon 3 generates two distinct isoforms, the longer transcript encodes for a 342 amino acid protein, while the shorter one encodes a 174 amino acid protein. The function of aprataxin is considered to play an important role in single-strand break repair. Clinical features of AOA1 patients show ataxic gait before 10 years of age; slowly progressive cerebellar dysfunction including nystagmus and dysarthria. The peripheral neuropathy has been disclosed with aging. Evaluation of peripheral neuropathy is important to perform physical therapy in AOA1 patients. <br>Method: In this study, we evaluated involvement of peripheral neuropathy by motor nerve conduction velocity, Neuropathy Disability Score and Medical Research Council sum-score and cerebellar dysfunction by International Cooperative Ataxia Rating Scale in two patients with AOA1. <br>Result: The motor nerve conduction velocity was slightly delayed on thirty-age, moderately on forty-age, respectively. Severe cerebellar dysfunction and muscle weakness and atrophy of distal lower extremities due to peripheral neuropathy were disclosed. <br>Conclusions: It is important to perform physical therapy for cerebellar dysfunction and peripheral neuropathy in young age patients with AOA1.

Journal

• Physical Therapy Japan

  Physical Therapy Japan 36 (6), 317-323, 2009-10-20

  Japanese Society of Physical Therapy

Keywords

• AOA1
• アプラタキシン
• 臨床症状

Details

• CRID: 1390282763036273024
• NII Article ID: 110007467996
• NII Book ID: AN10146032
• DOI: 10.15063/rigaku.kj00005823066
• ISSN: 2189602X
• ISSN: 02893770
• Web Site: https://search.jamas.or.jp/link/ui/2010072589
• Text Lang: ja
• Data Source:
  • JaLC
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed