Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature

被引：1
作者：
Carberry, Nathan [1 ]
Yu, Sun [2 ]
Fayerman, Raisy N. [3 ]
Dugue, Rachelle [3 ]
Miller, Michael [2 ]
Tanji, Kurenai [2 ]
Goyal, Tarini [3 ]
Canoll, Peter [2 ]
Brannagan, Thomas H., III [3 ]
机构：
[1] Univ Miami, Miller Sch Med, Dept Neurol, Neuromuscular Div, Miami, FL 33136 USA
[2] Columbia Univ, Dept Pathol, Irving Med Ctr, New York, NY USA
[3] Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA
来源：
NEUROHOSPITALIST | 2023年 / 13卷 / 01期
关键词：
transthyretin amyloidosis; TTR amyloidosis; CNS involvement; leptomeningeal disease; plateau waves; stroke-like episodes; LIVER-TRANSPLANTATION; HEREDITARY; POLYNEUROPATHY; MUTATIONS; TAFAMIDIS; SPECTRUM;
D O I：
10.1177/19418744221127849
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 31-year-old woman with transthyretin (TTR) amyloidosis secondary to a Thr60Ala mutation developed recurrent stroke-like episodes with fluctuating mental status. Evaluation for stroke and seizures was unrevealing. She was found to have leptomeningeal contrast enhancement on magnetic resonance imaging, which was confirmed to be CNS TTR amyloidosis on histopathology following brain and dura biopsy. While leptomeningeal disease has rarely been known to be associated with TTR amyloidosis, this is the first documented case of leptomeningeal disease secondary to a Thr60Ala mutation in the TTR gene. A literature review of TTR amyloidosis is presented with special focus on the treatment of leptomeningeal TTR amyloidosis.
引用
收藏
页码：90 / 95
页数：6
相关论文
共 40 条
  • [1] Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease
    Adams, David
    Koike, Haruki
    Slama, Michel
    Coelho, Teresa
    [J]. NATURE REVIEWS NEUROLOGY, 2019, 15 (07) : 387 - 404
  • [2] A PECULIAR FORM OF PERIPHERAL NEUROPATHY - FAMILIAR ATYPICAL GENERALIZED AMYLOIDOSIS WITH SPECIAL INVOLVEMENT OF THE PERIPHERAL NERVES
    ANDRADE, C
    [J]. BRAIN, 1952, 75 (03) : 408 - 427
  • [3] Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis
    Benson, M. D.
    Waddington-Cruz, M.
    Berk, J. L.
    Polydefkis, M.
    Dyck, P. J.
    Wang, A. K.
    Plante-Bordeneuve, V.
    Barroso, F. A.
    Merlini, G.
    Obici, L.
    Scheinberg, M.
    Brannagan, T. H., III
    Litchy, W. J.
    Whelan, C.
    Drachman, B. M.
    Adams, D.
    Heitner, S. B.
    Conceicao, I.
    Schmidt, H. H.
    Vita, G.
    Campistol, J. M.
    Gamez, J.
    Gorevic, P. D.
    Gane, E.
    Shah, A. M.
    Solomon, S. D.
    Monia, B. P.
    Hughes, S. G.
    Kwoh, T. J.
    McEvoy, B. W.
    Jung, S. W.
    Baker, B. F.
    Ackermann, E. J.
    Gertz, M. A.
    Coelho, T.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2018, 379 (01) : 22 - 31
  • [4] Suppression of choroid plexus transthyretin levels by antisense oligonucleotide treatment
    Benson, Merrill D.
    Smith, Richard A.
    Hung, Gene
    Kluve-Beckerman, Barbara
    Showalter, Aaron D.
    Sloop, Kyle W.
    Monia, Brett P.
    [J]. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2010, 17 (02): : 43 - 49
  • [5] Antibodies to human serum amyloid P component eliminate visceral amyloid deposits
    Bodin, Karl
    Ellmerich, Stephan
    Kahan, Melvyn C.
    Tennent, Glenys A.
    Loesch, Andrzej
    Gilbertson, Janet A.
    Hutchinson, Winston L.
    Mangione, Palma P.
    Gallimore, J. Ruth
    Millar, David J.
    Minogue, Shane
    Dhillon, Amar P.
    Taylor, Graham W.
    Bradwell, Arthur R.
    Petrie, Aviva
    Gillmore, Julian D.
    Bellotti, Vittorio
    Botto, Marina
    Hawkins, Philip N.
    Pepys, Mark B.
    [J]. NATURE, 2010, 468 (7320) : 93 - 97
  • [6] Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis
    Buxbaum, Joel N.
    Brannagan, Thomas, III
    Buades-Reines, Juan
    Cisneros, Eugenia
    Conceicao, Isabel
    Kyriakides, Theodoros
    Merlini, Giampaolo
    Obici, Laura
    Plante-Bordeneuve, Violaine
    Rousseau, Antoine
    Sekijima, Yoshiki
    Imai, Akira
    Cruz, Marcia Waddington
    Yamada, Masahito
    [J]. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2019, 26 (01): : 10 - 14
  • [7] Spectrum of Transient Focal Neurological Episodes in Cerebral Amyloid Angiopathy Multicentre Magnetic Resonance Imaging Cohort Study and Meta-Analysis
    Charidimou, Andreas
    Peeters, Andre
    Fox, Zoe
    Gregoire, Simone M.
    Vandermeeren, Yves
    Laloux, Patrice
    Jager, Hans R.
    Baron, Jean-Claude
    Werring, David J.
    [J]. STROKE, 2012, 43 (09) : 2324 - +
  • [8] 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
  • [9] THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis
    Coelho, Teresa
    Maurer, Mathew S.
    Suhr, Ole B.
    [J]. CURRENT MEDICAL RESEARCH AND OPINION, 2013, 29 (01) : 63 - 76
  • [10] Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)
    Ellie, E
    Camou, F
    Vital, A
    Rummens, C
    Grateau, G
    Delpech, M
    Valleix, S
    [J]. NEUROLOGY, 2001, 57 (01) : 135 - 137
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