Journal ArticleDOI
A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)
N. H. Wadia,R. K. Swami +1 more
Reads0
Chats0
About:
This article is published in Brain.The article was published on 1971-01-01. It has received 166 citations till now. The article focuses on the topics: Spinocerebellar Degenerations.read more
Citations
More filters
Journal ArticleDOI
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.
Gerhard Neuhäuser,John M. Opitz +1 more
TL;DR: An ataxia‐hypogonadism syndrome is reported in at least four of 15 family members (two brothers and two sisters), reflected in failure of maturation of secondary sexual characteristics, eunu‐choidism, absence of libido and infertility.
Journal ArticleDOI
Clinical aspects of CAG repeat diseases.
TL;DR: Seven neurodegenerative disorders are known to be caused by unstable expansions of the trinucleotide CAG within human genes, and more will be discovered in the coming years, which have unusual clinical genetic properties related to the dynamic nature of CAG repeat expansions.
Journal ArticleDOI
Oculomotor disorders in Huntington's chorea.
TL;DR: Electro-oculographic recordings from patients with Huntington's disease suggest a possible correlation between the difficulty in performing repeated ocular movements and the impaired execution of gestural sequences involving a succession of different fundamental movements.
Journal Article
Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.
Georg Auburger,Diaz Go,Capote Rf,Sanchez Sg,Perez Mp,del Cueto Me,Meneses Mg,Martin Farrall,Robert Williamson,Susan Chamberlain +9 more
TL;DR: Linkage analysis between the disease locus in this population and markers within and flanking the HLA region on chromosome 6 were undertaken in 12 families comprising over 100 affected individuals, and data strongly support the existence of genetic heterogeneity for the disease.
Journal ArticleDOI
Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study.
TL;DR: The rationale of AH use in heredodegenerative ataxias can be explained by its replacement effect (dopamine release) and by direct involvement of N-methyl-D-aspartate (NMDA) in glutamate mediated neurotoxicity in cerebellar granular cells; memantine, an AH analogue, is a potent blocker of NMDA receptors.
Related Papers (5)
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
Stefan M. Pulst,Alex Nechiporuk,Alex Nechiporuk,Tamilla Nechiporuk,Tamilla Nechiporuk,Suzana Gispert,Xiao Ning Chen,Iscia Lopes-Cendes,Susan Pearlman,Sidney Starkman,Guillermo Orozco-Diaz,Astrid Lunkes,Pieter DeJong,Guy A. Rouleau,Georg Auburger,Julie R. Korenberg,Carla P. Figueroa,Carla P. Figueroa,Soodabeh Sahba,Soodabeh Sahba +19 more
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
Kazuhiro Sanpei,Hiroki Takano,Shuichi Igarashi,Tomoe Sato,Mutsuo Oyake,Hidenao Sasaki,Akemi Wakisaka,Kunio Tashiro,Y Ishida,Takeshi Ikeuchi,Reiji Koide,Masaaki Saito,Aki Sato,Toshihisa Tanaka,S Hanyu,Yoshihisa Takiyama,Masatoyo Nishizawa,N Shimizu,Yoshiko Nomura,Masaya Segawa,Kiyoshi Iwabuchi,I. Eguchi,Hirosato Tanaka,Hitoshi Takahashi,Shoji Tsuji +24 more
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
Georges Imbert,Frédéric Saudou,Frédéric Saudou,Gaël Yvert,Gaël Yvert,Didier Devys,Didier Devys,Yvon Trottier,Yvon Trottier,Jean-Marie Garnier,Jean-Marie Garnier,Chantal Weber,Chantal Weber,Jean-Louis Mandel,Jean-Louis Mandel,Géraldine Cancel,Géraldine Cancel,Nacer Abbas,Nacer Abbas,Alexandra Durr,Alexandra Durr,Olivier Didierjean,Olivier Didierjean,Giovanni Stevanin,Giovanni Stevanin,Yves Agid,Yves Agid,Alexis Brice,Alexis Brice +28 more