Literature DB >> 12796826

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.

Y Hellenbroich1, S Bubel, H Pawlack, S Opitz, P Vieregge, E Schwinger, C Zühlke.   

Abstract

Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.

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Year:  2003        PMID： 12796826     DOI： 10.1007/s00415-003-1052-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  16 in total

1.  Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.

Authors:  Yorck Hellenbroich; Veronica Bernard; Christine Zühlke
Journal:  J Neurol       Date:  2008-02-25       Impact factor: 4.849

2.  Secretory Carrier Membrane Protein 2 Regulates Cell-surface Targeting of Brain-enriched Na+/H+ Exchanger NHE5.

Authors:  Graham H Diering; John Church; Masayuki Numata
Journal:  J Biol Chem       Date:  2009-03-10       Impact factor: 5.157

3.  Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.

Authors:  Y Hellenbroich; K Gierga; E Reusche; E Schwinger; T Deller; R A I de Vos; C Zühlke; U Rüb
Journal:  J Neural Transm (Vienna)       Date:  2005-12-19       Impact factor: 3.575

4.  Magnetic resonance imaging in spinocerebellar ataxias.

Authors:  Susanne Döhlinger; Till-Karsten Hauser; Johannes Borkert; Andreas R Luft; Jörg B Schulz
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

5.  Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.

Authors:  Y Hellenbroich; H Pawlack; U Rüb; E Schwinger; Ch Zühlke
Journal:  J Neurol       Date:  2005-07-07       Impact factor: 4.849

6.  An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.

Authors:  Kinya Ishikawa; Shuta Toru; Taiji Tsunemi; Mingshun Li; Kazuhiro Kobayashi; Takanori Yokota; Takeshi Amino; Kiyoshi Owada; Hiroto Fujigasaki; Masaki Sakamoto; Hiroyuki Tomimitsu; Minoru Takashima; Jiro Kumagai; Yoshihiro Noguchi; Yoshiyuki Kawashima; Norio Ohkoshi; Gen Ishida; Manabu Gomyoda; Mari Yoshida; Yoshio Hashizume; Yuko Saito; Shigeo Murayama; Hiroshi Yamanouchi; Toshio Mizutani; Ikuko Kondo; Tatsushi Toda; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2005-07-06       Impact factor: 11.025

7.  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

Review 8.  Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.

Authors:  Christine Zühlke; Katrin Bürk
Journal:  Cerebellum       Date:  2007-01-19       Impact factor: 3.847

9.  Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Authors:  Nozomu Sato; Takeshi Amino; Kazuhiro Kobayashi; Shuichi Asakawa; Taro Ishiguro; Taiji Tsunemi; Makoto Takahashi; Tohru Matsuura; Kevin M Flanigan; Sawa Iwasaki; Fumitoshi Ishino; Yuko Saito; Shigeo Murayama; Mari Yoshida; Yoshio Hashizume; Yuji Takahashi; Shoji Tsuji; Nobuyoshi Shimizu; Tatsushi Toda; Kinya Ishikawa; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2009-10-29       Impact factor: 11.025

10.  Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.

Authors:  Stefan Wieczorek; Larissa Arning; Ingrid Alheite; Jörg T Epplen
Journal:  J Hum Genet       Date:  2006-02-21       Impact factor: 3.172
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