LATE ONSET HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) CAUSED BY A NOVEL P.C133R MISSENSE MUTATION IN SPTLC1

被引:0
|
作者
Rautenstrauss, B. [1 ,2 ]
Neitzel, B. [1 ]
Muench, C. [3 ]
Haas, J. [3 ]
Holinski-Feder, E. [1 ]
Abicht, A. [1 ,2 ]
机构
[1] Ctr Med Genet, Munich, Germany
[2] Univ Munich, Friedrich Baur Inst, D-80539 Munich, Germany
[3] Jewish Hosp Berlin, Berlin, Germany
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:124 / 125
页数:2
相关论文
共 50 条
  • [21] A novel splice-site mutation in the SPTLC1 gene causes HSN type I in an Spanish family
    Pou-Serradell, A
    Zabala, J
    Verhoeven, K
    Nelis, E
    De Jonghe, R
    Timmerman, V
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S62 - S63
  • [22] Characterization of Two Mutations in the SPTLC1 Subunit of Serine Palmitoyltransferase Associated with Hereditary Sensory and Autonomic Neuropathy Type I
    Rotthier, Annelies
    Penno, Anke
    Rautenstrauss, Bernd
    Auer-Grumbach, Michaela
    Stettner, Georg M.
    Asselbergh, Bob
    Van Hoof, Kim
    Sticht, Heinrich
    Levy, Nicolas
    Timmerman, Vincent
    Hornemann, Thorsten
    Janssens, Katrien
    HUMAN MUTATION, 2011, 32 (06) : E2211 - E2225
  • [23] Clinical And Genetic Study of The Sptlc1 Gene Mutation in Patients With Heridetary Sensory Neuropahty Type 1
    Mourad, H.
    Fadel, W.
    El Batch, M.
    INTERNATIONAL MEDICAL JOURNAL MALAYSIA, 2009, 8 (01) : 29 - 38
  • [24] Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
    Hines, Timothy J.
    Tadenev, Abigail L. D.
    Lone, Museer A.
    Hatton, Courtney L.
    Bagasrawala, Inseyah
    Stum, Morgane G.
    Miers, Kathy E.
    Hornemann, Thorsten
    Burgess, Robert W.
    JOURNAL OF ANATOMY, 2022, 241 (05) : 1169 - 1185
  • [25] Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    Jennifer L. Dawkins
    Dennis J. Hulme
    Sonal B. Brahmbhatt
    Michaela Auer-Grumbach
    Garth A. Nicholson
    Nature Genetics, 2001, 27 : 309 - 312
  • [26] Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    Dawkins, JL
    Hulme, DJ
    Brahmbhatt, SB
    Auer-Grumbach, M
    Nicholson, GA
    NATURE GENETICS, 2001, 27 (03) : 309 - 312
  • [27] Calcium mediated calpain activation and microtubule dissociation in hereditary sensory neuropathy-1A expressing V144D SPTLC1 mutation
    Shanu, Anu
    Ng, Neville
    Lauto, Antonio
    Coorssen, Jens
    Myers, Simon
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 513 - 513
  • [28] Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2
    Murphy, S. M.
    Laura, M.
    Ernst, D.
    Liu, Y. -T.
    Blake, J.
    Donaghy, M.
    Winer, J.
    Houlden, H.
    Hornemann, T.
    Reilly, M. M.
    NEUROMUSCULAR DISORDERS, 2012, 22 : S19 - S19
  • [29] A mouse knockin allele of Sptlc1-C133W to model hereditary autonomic and sensory neuropathy 1 (HSAN1)
    Hatton, Courtney
    Tadenev, Abigail
    Hornemann, Thorsten
    Burgess, Rob
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (03) : 406 - 406
  • [30] A novel missense mutation confirms ATL3 las a gene for hereditary sensory neuropathy type 1
    Fischer, Dirk
    Schabhuettl, Maria
    Wieland, Thomas
    Windhager, Reinhard
    Strom, Tim M.
    Auer-Grumbach, Michaela
    BRAIN, 2014, 137