Inherited neuropathies: an update

被引：4
作者：
Sagnelli, Anna [1 ]
Piscosquito, Giuseppe [1 ]
Pareyson, Davide [1 ]
机构：
[1] C Besta Neurol Inst, Dept Clin Neurosci, IRCCS Fdn, Clin Cent & Peripheral Degenerat Neuropathies Uni, I-20133 Milan, Italy
来源：
JOURNAL OF NEUROLOGY | 2013年 / 260卷 / 10期
基金：
美国国家卫生研究院;
关键词：
Charcot-Marie-Tooth disease; Familial amyloid polyneuropathy; Mitochondrial disease; Tangier disease; Allgrove syndrome; ARSACS; MARIE-TOOTH DISEASE; CHARLEVOIX-SAGUENAY ARSACS; RECESSIVE SPASTIC ATAXIA; AUTONOMIC NEUROPATHIES; HEREDITARY NEUROPATHY; MOLECULAR DIAGNOSIS; FABRY DISEASE; MUTATIONS; POLYNEUROPATHY; SCHWANNOMAS;
D O I：
10.1007/s00415-013-7113-x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
In this review, progress in hereditary neuropathy research published in the Journal of Neurology over the last 18 months is summarised.
引用
收藏
页码：2684 / 2690
页数：7
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共 48 条
  • [1] Recent advances in the treatment of familial amyloid polyneuropathy
    Adams, David
    [J]. THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS, 2013, 6 (02) : 129 - 139
  • [2] Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy
    Baeumer, P.
    Mautner, V. F.
    Baeumer, T.
    Schuhmann, M. U.
    Tatagiba, M.
    Heiland, S.
    Kaestel, T.
    Bendszus, M.
    Pham, M.
    [J]. JOURNAL OF NEUROLOGY, 2013, 260 (01) : 38 - 46
  • [3] Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy
    Bersano, A.
    Lanfranconi, S.
    Valcarenghi, C.
    Bresolin, N.
    Micieli, G.
    Baron, P.
    [J]. ACTA NEUROLOGICA SCANDINAVICA, 2012, 126 (02): : 77 - 97
  • [4] Small fibre neuropathy in Fabry disease
    Bertelsen, A. K.
    Tondel, C.
    Krohn, J.
    Bull, N.
    Aarseth, J.
    Houge, G.
    Mellgren, S. I.
    Vedeler, C. A.
    [J]. JOURNAL OF NEUROLOGY, 2013, 260 (03) : 917 - 919
  • [5] Cerebrotendinous xanthomatosis
    Bjorkhem, Ingemar
    [J]. CURRENT OPINION IN LIPIDOLOGY, 2013, 24 (04) : 283 - 287
  • [6] Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis
    Briani, Chiara
    Cavallaro, Tiziana
    Ferrari, Sergio
    Taioli, Federica
    Calamelli, Sara
    Verga, Laura
    Adami, Fausto
    Fabrizi, Gian Maria
    [J]. JOURNAL OF NEUROLOGY, 2012, 259 (10) : 2226 - 2228
  • [7] Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy
    Coelho, Teresa
    Maia, Luis F.
    da Silva, Ana Martins
    Cruz, Marcia W.
    Plante-Bordeneuve, Violaine
    Suhr, Ole B.
    Conceicao, Isabel
    Schmidt, Hartmut H. -J.
    Trigo, Pedro
    Kelly, Jeffery W.
    Labaudiniere, Richard
    Chan, Jason
    Packman, Jeff
    Grogan, Donna R.
    [J]. JOURNAL OF NEUROLOGY, 2013, 260 (11) : 2802 - 2814
  • [8] Safety and Efficacy of RNAi Therapy for Transthyretin Amyloidosis
    Coelho, Teresa
    Adams, David
    Silva, Ana
    Lozeron, Pierre
    Hawkins, Philip N.
    Mant, Timothy
    Perez, Javier
    Chiesa, Joseph
    Warrington, Steve
    Tranter, Elizabeth
    Munisamy, Malathy
    Falzone, Rick
    Harrop, Jamie
    Cehelsky, Jeffrey
    Bettencourt, Brian R.
    Geissler, Mary
    Butler, James S.
    Sehgal, Alfica
    Meyers, Rachel E.
    Chen, Qingmin
    Borland, Todd
    Hutabarat, Renta M.
    Clausen, Valerie A.
    Alvarez, Rene
    Fitzgerald, Kevin
    Gamba-Vitalo, Christina
    Nochur, Saraswathy V.
    Vaishnaw, Akshay K.
    Sah, Dinah W. Y.
    Gollob, Jared A.
    Suhr, Ole B.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (09) : 819 - 829
  • [9] Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II
    Coen, K
    Pareyson, D
    Auer-Grumbach, M
    Buyse, G
    Goemans, N
    Claeys, KG
    Verpoorten, N
    Laurà, M
    Scaioli, V
    Salmhofer, W
    Pieber, TR
    Nelis, E
    De Jonghe, P
    Timmerman, V
    [J]. NEUROLOGY, 2006, 66 (05) : 748 - 751
  • [10] Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
    Davidson, G. L.
    Murphy, S. M.
    Polke, J. M.
    Laura, M.
    Salih, M. A. M.
    Muntoni, F.
    Blake, J.
    Brandner, S.
    Davies, N.
    Horvath, R.
    Price, S.
    Donaghy, M.
    Roberts, M.
    Foulds, N.
    Ramdharry, G.
    Soler, D.
    Lunn, M. P.
    Manji, H.
    Davis, M. B.
    Houlden, H.
    Reilly, M. M.
    [J]. JOURNAL OF NEUROLOGY, 2012, 259 (08) : 1673 - 1685
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