Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Kyoko Maruta"'
Publikováno v:
Brain and nerve = Shinkei kenkyu no shinpo. 74(11)
More than 90% of replication factor c subunit 1 (RFC1) gene-related spectrum disorders such as cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) have bilateral vestibular dysfunction. A case with CANVAS presented in this pa
Publikováno v:
Rinsho shinkeigaku = Clinical neurology. 62(4)
We report a patient with myelin oligodendrocyte glycoprotein (MOG) antibody positivity who manifested myelitis with right optic perineuritis (OPN) 6 years following left OPN. A 45-year-old man treated 6 years previously for left OPN developed ascendi
Publikováno v:
Rinsho Shinkeigaku. 60:543-548
We describe an additional patient with spastic paraplegia 48 (SPG48). A 52-year-old woman with gradually increasing gait disturbance was admitted to our hospital. When she was 47 years old, acquaintances noted a shuffling gait. Gait worsening was evi
Publikováno v:
Rinsho shinkeigaku = Clinical neurology. 60(8)
We describe an additional patient with spastic paraplegia 48 (SPG48). A 52-year-old woman with gradually increasing gait disturbance was admitted to our hospital. When she was 47 years old, acquaintances noted a shuffling gait. Gait worsening was evi
Publikováno v:
Rinsho shinkeigaku = Clinical neurology. 59(1)
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare form of multisystem ataxia defined by a triad of cerebellar impairment, bilateral vestibular hypofunction, and somatosensory deficit. Here we present a patient wit
Publikováno v:
Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics. 49:491-495
We report a patient with optic neuropathy and longitudinally extensive myelitis associated with anti-aquaporin 4 (AQP4) antibody and other autoantibodies. An 89-year-old woman presented with progressive numbness and weakness of the extremities which
Genotype–phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia
Autor:
Mitsunori Yamada, Masatoyo Nishizawa, Shoji Tsuji, Kyoko Maruta, Akihide Koyama, Yoshiki Sekijima, Miyuki Tsuchiya, Atsushi Shiga, Tatsuya Sato, Akio Yokoseki, Takeshi Ikeuchi, Chieko Suzuki, Tomohiko Ishihara, Osamu Onodera, Hidetoshi Date, Masayoshi Tada
Publikováno v:
Brain. 134:1387-1399
Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia-oculomotor apraxia 1 is a recessively inherited ataxia caused by mutations in the aprataxin gene. We previously reported that patients with frameshift mutations exhibit a more s
Autor:
Yoshito Sonoda, Fujio Umehara, Joeji Wakimoto, Yuichi Uchida, Kyoko Maruta, Hidetoshi Fukunaga
Publikováno v:
Rinsho Shinkeigaku. 50:232-240
A 64-year-old woman was referred to our hospital because of disturbance of consciousness. She had undergone distal gastrectomy for gastric carcinoma 17 years previously. General physical examination was unremarkable, neurologic examination disclosed
Publikováno v:
Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics. 41:339-343
A 72-year-old woman with von Recklinghausen's disease was referred to our hospital because of pain and muscle weakness in her thighs. She had elevated serum values of creatine kinase, aspartate aminotransferase, alanine aminotransferase, lactate dehy
Publikováno v:
The Japanese Journal of Rehabilitation Medicine. 34:610-613