Literature DB >> 33816655

Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.

Ghazal Haeri1, Fahimeh Hajiakhoundi2, Afagh Alavi3, Maryam Ghiasi4, Renato P Munhoz5,6, Mohammad Rohani1.   

Abstract

Entities:  

Keywords:  ELOVL fatty acid elongase 4; ELOVL4; SCA34; hot cross bun sign; ichthyosis; myoclonus; spinocerebellar ataxia

Year:  2021        PMID： 33816655      PMCID： PMC8008277          DOI： 10.1002/mdc3.13123

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  7 in total

1.  A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

Authors:  Cynthia V Bourassa; Salmo Raskin; Sérgio Serafini; Hélio A G Teive; Patrick A Dion; Guy A Rouleau
Journal:  JAMA Neurol       Date:  2015-08       Impact factor: 18.302

2.  Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

Authors:  Maxime Cadieux-Dion; Maude Turcotte-Gauthier; Anne Noreau; Caroline Martin; Caroline Meloche; Micheline Gravel; Christian Allen Drouin; Guy A Rouleau; Dang Khoa Nguyen; Patrick Cossette
Journal:  JAMA Neurol       Date:  2014-04       Impact factor: 18.302

3.  Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.

Authors:  Kokoro Ozaki; Ayaka Ansai; Kouji Nobuhara; Toshihiko Araki; Takayuki Kubodera; Takashi Ishii; Miwa Higashi; Nozomu Sato; Kazumasa Soga; Hidehiro Mizusawa; Kinya Ishikawa; Takanori Yokota
Journal:  Parkinsonism Relat Disord       Date:  2019-05-13       Impact factor: 4.891

4.  A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

Authors:  Kokoro Ozaki; Hiroshi Doi; Jun Mitsui; Nozomu Sato; Yoichiro Iikuni; Takamasa Majima; Kiyomi Yamane; Takashi Irioka; Hiroyuki Ishiura; Koichiro Doi; Shinichi Morishita; Miwa Higashi; Teruhiko Sekiguchi; Kazuo Koyama; Naohisa Ueda; Yoshiharu Miura; Satoko Miyatake; Naomichi Matsumoto; Takanori Yokota; Fumiaki Tanaka; Shoji Tsuji; Hidehiro Mizusawa; Kinya Ishikawa
Journal:  JAMA Neurol       Date:  2015-07       Impact factor: 18.302

5.  Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Authors:  Pierre R Bourque; Jodi Warman-Chardon; Daniel A Lelli; Lauren LaBerge; Carly Kirshen; Scott H Bradshaw; Taila Hartley; Kym M Boycott
Journal:  Neurol Genet       Date:  2018-07-26

6.  A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.

Authors:  Changrui Xiao; Elaine M Binkley; Jessica Rexach; Amy Knight-Johnson; Pravin Khemani; Brent L Fogel; Soma Das; Edwin M Stone; Christopher M Gomez
Journal:  Neurol Genet       Date:  2019-09-23

7.  Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Authors:  Marie Beaudin; Leila Sellami; Christian Martel; Lydia Touzel-Deschênes; Gabrielle Houle; Laurence Martineau; Kevin Lacroix; Andréane Lavallée; Nicolas Chrestian; Guy A Rouleau; François Gros-Louis; Robert Laforce; Nicolas Dupré
Journal:  Neurol Genet       Date:  2020-02-20
  7 in total
  1 in total

Review 1.  Skin Conditions and Movement Disorders: Hiding in Plain Sight.

Authors:  Kristina Kulcsarova; Janette Baloghova; Jan Necpal; Matej Skorvanek
Journal:  Mov Disord Clin Pract       Date:  2022-03-24
  1 in total

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