Atypical Rigid Form of Huntington's Disease: A Case with Peripheral Amyotrophy and Congenital Defects of a Lower Limb

スポンサーリンク

概要

• 論文の詳細を見る

• We describe a patient showing an atypical phenotype of Huntingtons disease (HD), including prominent generalized dystonia, peripheral amyotrophy of the legs with an inverted champagne bottle configuration and pes equinus. The patient also had congenital defects of the lower left leg. Chorea and psychiatric symptoms were not prominent. Polymerase chain reaction assessment revealed 51 CAG repeats in gene IT 15. Magnetic resonance imaging of the brain demonstrated mild atrophy of the pons and cerebellum, and hyperintensity of the transverse pontine fibers and neostriatum on spin-echo images. Peripheral amyotrophy in this case might have resulted from axonal degeneration related to neuronal damage in the central nervous system, although at the present time we cannot confirm it as a new HD phenotype.(Internal Medicine 37: 978-981, 1998)

• 社団法人 日本内科学会の論文

著者

• Saito Mineki

  The Third Department Of Internal Medicine Kagoshima University

• NAKAGAWA MASANORI

  The Third Department of Internal Medicine, Kagoshima University Faculty of Medicine

• HORIKIRI Takashi

  The Third Department of Internal Medicine, Faculty of Medicine,Kagoshima University

• KANZATO Naomi

  the Department of Neurology, National Okinawa Hospital

• KOMINE Yukihiro

  the Third Department of Internal Medicine, Ryukyus University

• MATSUZAKI Toshio

  the Third Department of Internal Medicine, Kagoshima University

• Horikiri Takashi

  The Third Department Of Internal Medicine Kagoshima University

• Matsuzaki Toshio

  The Third Department Of Internal Medicine Kagoshima University

• Kanzato Naomi

  The Department Of Neurology National Okinawa Hospital

• Komine Yukihiro

  The Third Department Of Internal Medicine Ryukyus University

• Nakagawa Masanori

  The Third Department Of Internal Medicine Kagoshima University

関連論文

• Clinical Investigation of the Lesions Responsible for Sensory Disturbance in Minamata Disease
• Statistically Significant Differences in the Number of CD24 Positive Muscle Fibers and Satellite Cells between Sarcoglycanopathy and Age-Matched Becker muscular Dystrophy Patients
• Immunohistochemical Analysis of the Pathogenicity of Helicobacter pylori Infection : Excess Nitric Oxide Induced Indirectly by Lewis X and Y is the Cause of the Pathogenicity of Helicobacter pylori Infestation in the Stomach
• Facioscapulohumeral Muscular Dystrophy: Clinical Diversity and Genetic Abnormalities in Japanese Patients
• Nationwide Survey of Neurologic Manifestations of Acquired Immunodeficiency Syndrome in Japan
• A Hemophiliac with Human Immunodeficiency Virus (HIV)-1-Associated Dementia Complex
• IMMUNOHISTOCHEMICAL STUDY OF CYTOCHROME C OXIDASE WITH A MONOCLONAL ANTIBODY IN MITOCHONDRIAL MYOPATHY
• Familial Skeletal Myopathy with Atrioventricular Block
• Atypical Rigid Form of Huntington's Disease: A Case with Peripheral Amyotrophy and Congenital Defects of a Lower Limb
• Adenosine and Neopterin Levels in Cerebrospinal Fluid of Patients with Neurological Disorders
• Dystrophin-Related Protein in Becker Muscular Dystrophy.
• Diseases among Men Living in Human T-Lymphotropic Virus Type I Endemic Areas in Japan.

もっと見る 閉じる

スポンサーリンク