Literature DB >> 16795073

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.

Satoshi Kaneko1, Toshitaka Kawarai, Edwin Yip, Shabnam Salehi-Rad, Christine Sato, Antonio Orlacchio, Giorgio Bernardi, Yan Liang, Hiroshi Hasegawa, Ekaterina Rogaeva, Peter St George-Hyslop.   

Abstract

We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6. (c) 2006 Movement Disorder Society.

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Year:  2006        PMID： 16795073     DOI： 10.1002/mds.21005

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  5 in total

1.  TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Authors:  Maria Martinez-Lage; Laura Molina-Porcel; Dana Falcone; Leo McCluskey; Virginia M-Y Lee; Vivianna M Van Deerlin; John Q Trojanowski
Journal:  Acta Neuropathol       Date:  2012-08       Impact factor: 17.088

2.  Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.

Authors:  Xinnan Wang; W Robert Shaw; Hilda T H Tsang; Evan Reid; Cahir J O'Kane
Journal:  Nat Neurosci       Date:  2007-01-14       Impact factor: 24.884

3.  The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

Authors:  Emmanuel J Botzolakis; Jiali Zhao; Katharine N Gurba; Robert L Macdonald; Peter Hedera
Journal:  Mol Cell Neurosci       Date:  2010-09-21       Impact factor: 4.314

4.  Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.

Authors:  Jiali Zhao; Dawn S Matthies; Emmanuel J Botzolakis; Robert L Macdonald; Randy D Blakely; Peter Hedera
Journal:  J Neurosci       Date:  2008-12-17       Impact factor: 6.167

5.  Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.

Authors:  Jun Fu; Mingming Ma; Gang Li; Jiewen Zhang
Journal:  Front Genet       Date:  2022-04-08       Impact factor: 4.772
  5 in total

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