NOSOLOGY OF CONGENITAL NON-PROGRESSIVE CEREBELLAR ATAXIA - REPORT ON 6 CASES IN 3 FAMILIES

被引：19
|
作者：
PFEIFFER, RA
PALM, D
JUNEMANN, G
MANDLKRA.S
HEIMANN, E
机构：
[1] INST HUMANGENET,VESALIUS WEG 12-14,44 MUNSTER,WEST GERMANY
[2] UNIV MUNSTER,KINDER KLIN,ROBERT KOCH STR 31,44 MUNSTER,WEST GERMANY
[3] UNIV MUNSTER,AUGEN KLIN,WESTRING 15,44 MUNSTER,WEST GERMANY
[4] UNIV COLOGNE,KINDER KLIN,JOSEF STELZMANN STR 19,5 COLOGNE 41,WEST GERMANY
[5] UNIV COLOGNE,AUGEN KLIN,JOSEF STELZMANN STR 19,5 COLOGNE 41,WEST GERMANY
来源：
NEUROPADIATRIE | 1974年 / 5卷 / 01期
关键词：
D O I：
10.1055/s-0028-1091691
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：91 / 102
页数：12
相关论文
共 50 条
  • [31] ACUTE CEREBELLAR ATAXIA OF CHILDHOOD - REPORT OF 9 CASES
    KING, G
    SCHWARZ, GA
    SLADE, HW
    PEDIATRICS, 1958, 21 (05) : 731 - 745
  • [32] NON-PROGRESSIVE CONGENITAL MYOPATHY/WITH CENTRAL AXIS (CENTRAL CORE DISEASE)
    JEAN, R
    BONNET, H
    PAGES, A
    CADILHAC, J
    BALDET, P
    DUMAS, R
    ARCHIVES FRANCAISES DE PEDIATRIE, 1971, 28 (01): : 65 - &
  • [33] Postzygotic KITLG mutation in a congenital non-progressive linear nevoid hyperpigmentation
    Sorlin, A.
    Maruani, A.
    Riviere, J.
    Duffourd, Y.
    Kuentz, P.
    Jouan, T.
    Thauvin-Robinet, C.
    Thevenon, J.
    Faivre, L.
    Vabres, P.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (09) : S186 - S186
  • [34] Non-motor symptoms (NMS) in progressive cerebellar ataxia
    De Silva, Rajith
    Makawita, Chulika
    Al-Sami, Yaqub
    Aslanyan, Aram
    Ananthavarathan, Piriyankan
    Malek, Naveed
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [35] Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria
    Cheminal, R
    Echenne, B
    Bellet, H
    Duran, M
    JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (01) : 25 - 30
  • [36] Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia
    Yoshida, Kunihiro
    Okano, Tomomi
    Hoshi, Kenichi
    Yahikozawa, Hiroyuki
    Suzuki, Kayo
    Banno, Haruhiko
    Tamura, Takuya
    Sobue, Gen
    Ikeda, Shu-ichi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (13) : 1494 - 1501
  • [37] Case of congenital fibrosis of the extraocular muscles type 1 with progressive cerebellar ataxia
    Yamashita, Toru
    Takahashi, Yoshiaki
    Tsunoda, Keiichiro
    Nomura, Emi
    Shang, Jingwei
    Sato, Kota
    Takemoto, Mami
    Hishikawa, Nozomi
    Ohta, Yasuyuki
    Abe, Koji
    NEUROLOGY AND CLINICAL NEUROSCIENCE, 2018, 6 (02): : 48 - 50
  • [38] A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine
    Imbrici, Paola
    Conte, Elena
    Blunck, Rikard
    Stregapede, Fabrizia
    Liantonio, Antonella
    Tosi, Michele
    D'Adamo, Maria Cristina
    De Luca, Annamaria
    Brankovic, Vesna
    Zanni, Ginevra
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (18)
  • [39] NON-PROGRESSIVE CEREBELLAR-ATAXIA, APLASIA OF PUPILLARY ZONE OF IRIS, AND MENTAL-SUBNORMALITY (GILLESPIES SYNDROME) AFFECTING 3 MEMBERS OF A NON-CONSANGUINEOUS FAMILY IN 2 GENERATIONS
    CRAWFURD, MDA
    HARCOURT, RB
    SHAW, PA
    JOURNAL OF MEDICAL GENETICS, 1979, 16 (05) : 373 - 378
  • [40] Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy
    Lacerda Machado, Roberta Ismael
    Vieira de Alburquerque Filho, Jose Marcos
    Sgobbi de Souza, Paulo Victor
    Aivazoglou, Lais Uyeda
    Lombardi Badia, Bruno de Mattos
    Torres Ogata, Stephanie Yuri
    Farias, Igor Braga
    Aihara, Andre Yui
    Correa Fernandes, Artur da Rocha
    Vieira de Rezende Pinto, Wladimir Bocca
    Bulle Oliveira, Acary Souza
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2021, 79 (05) : 465 - 466
12345