Literature DB >> 11723290

A new autosomal dominant pure cerebellar ataxia.

E Storey1, R J Gardner, M A Knight, M L Kennerson, R R Tuck, S M Forrest, G A Nicholson.   

Abstract

A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more decades of disease duration. Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied.

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Year:  2001        PMID： 11723290     DOI： 10.1212/wnl.57.10.1913

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  19 in total

Review 1.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

Review 2.  An update on inherited ataxias.

Authors:  Tanja Schmitz-Hübsch; Thomas Klockgether
Journal:  Curr Neurol Neurosci Rep       Date:  2008-07       Impact factor: 5.081

Review 3.  Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration.

Authors:  Elan D Louis; Phyllis L Faust
Journal:  Cerebellum       Date:  2020-12       Impact factor: 3.847

Review 4.  Spinocerebellar ataxia 15: A phenotypic review and expansion.

Authors:  Philip W Tipton; Kimberly Guthrie; Audrey Strongosky; Ronald Reimer; Zbigniew K Wszolek
Journal:  Neurol Neurochir Pol       Date:  2016-11-10       Impact factor: 1.621

Review 5.  Spinocerebellar ataxia type 15.

Authors:  R J McKinlay Gardner; Melanie A Knight; Kenju Hara; Shoji Tsuji; Susan M Forrest; Elsdon Storey
Journal:  Cerebellum       Date:  2005       Impact factor: 3.847

Review 6.  The spinocerebellar ataxias: order emerges from chaos.

Authors:  Russell L Margolis
Journal:  Curr Neurol Neurosci Rep       Date:  2002-09       Impact factor: 5.081

7.  Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Authors:  Eleonora Di Gregorio; Laura Orsi; Massimiliano Godani; Giovanna Vaula; Stella Jensen; Eric Salmon; Giancarlo Ferrari; Stefania Squadrone; Maria Cesarina Abete; Claudia Cagnoli; Alessandro Brussino; Alfredo Brusco
Journal:  Cerebellum       Date:  2010-03       Impact factor: 3.847

8.  Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.

Authors:  Ryuki Hirano; Hiroshi Takashima; Ryuichi Okubo; Keiko Tajima; Yuji Okamoto; Shimon Ishida; Kazuhito Tsuruta; Takayo Arisato; Hitoshi Arata; Masanori Nakagawa; Mitsuhiro Osame; Kimiyoshi Arimura
Journal:  Neurogenetics       Date:  2004-09-29       Impact factor: 2.660

9.  Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.

Authors:  Li Wang; Ying Hao; Peng Yu; Zhenhua Cao; Jin Zhang; Xin Zhang; Yuanyuan Chen; Hao Zhang; Weihong Gu
Journal:  Cerebellum       Date:  2018-06       Impact factor: 3.847

10.  SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Authors:  Cecilia Marelli; Joyce van de Leemput; Janel O Johnson; Francois Tison; Christel Thauvin-Robinet; Fabienne Picard; Christine Tranchant; Dena G Hernandez; Bernard Huttin; Jacques Boulliat; Iban Sangla; Christian Marescaux; Serge Brique; Hélène Dollfus; Sampath Arepalli; Isabelle Benatru; Elisabeth Ollagnon; Sylvie Forlani; John Hardy; Giovanni Stevanin; Alexandra Dürr; Andrew Singleton; Alexis Brice
Journal:  Arch Neurol       Date:  2011-05
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