Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type i in monozygotic twins with a novel mutation in the alpha-l-iduronidase gene

Journal of the Neurological Sciences

Volumn 302, Issue 1-2, 2011, Pages 121-125

  Furukawa, Yutaka ^a   Hamaguchi, Ayumi ^a   Nozaki, Ichiro ^a   Iizuka, Takashi ^a   Sasagawa, Takeshi ^b   Shima, Yosuke ^b   Demura, Satoru ^b   Murakami, Hideki ^b   Kawahara, Norio ^b   Okuyama, Torayuki ^c   Iwasa, Kazuo ^a   Yamada, Masahito ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b KANAZAWA UNIVERSITY HOSPITAL   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Alpha L iduronidase gene mutation; Cervical myelopathy; Monozygotic twin; Mucopolysaccharidosis type I; Pachymeningeal hypertrophy

Indexed keywords

LEVO IDURONIDASE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CERVICAL MYELOPATHY; CERVICAL PACHYMENINGEAL HYPERTROPHY; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME ASSAY; GENE MUTATION; HUMAN; HURLER SYNDROME; MALE; MONOZYGOTIC TWINS; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAMENINGEAL DISORDER; PRIORITY JOURNAL;

CERVICAL VERTEBRAE; DNA; DNA MUTATIONAL ANALYSIS; DURA MATER; GAIT DISORDERS, NEUROLOGIC; HUMANS; HYPERTROPHY; IDURONIDASE; MAGNETIC RESONANCE IMAGING; MALE; MUCOPOLYSACCHARIDOSIS I; MUTATION; RADIOGRAPHY, THORACIC; SPINAL CORD DISEASES; SPINE; TWINS, MONOZYGOTIC; YOUNG ADULT;

EID: 79951517005     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.11.022     Document Type: Article

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