A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation

Amyloid

Volumn 13, Issue 1, 2006, Pages 37-41

  Shimizu, Yuko ^a   Takeuchi, Megumi ^a   Matsumura, Miyuki ^a   Tokuda, Takahiko ^b   Iwata, Makoto ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Ala25Thr; Demyelinating polyradiculoneuropathy; High dose intravenous immunoglobulin administration; Leptomeningeal amyloidosis; Transthyretin mutation

Indexed keywords

ALANINE; IMMUNOGLOBULIN; PREALBUMIN; THREONINE;

ADULT; AMYLOIDOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DEMYELINATING DISEASE; DRUG MEGADOSE; GENE MUTATION; HEARING LOSS; HUMAN; HYPESTHESIA; HYPOALGESIA; JAPAN; LEPTOMENINGEAL AMYLOIDOSIS; LIMB DYSESTHESIA; MALE; MUSCLE STRENGTH; NERVE BIOPSY; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; POLYRADICULONEUROPATHY; PRIORITY JOURNAL; VERTIGO;

ALANINE; AMINO ACID SUBSTITUTION; AMYLOID NEUROPATHIES; AMYLOIDOSIS; BRAIN; BRAIN STEM; CEREBELLUM; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; MALE; MENINGES; MIDDLE AGED; POINT MUTATION; PREALBUMIN; THREONINE;

EID: 33646792190     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.1080/13506120600551814     Document Type: Article

References (23)

1. Benson MD. Leptomeningeal amyloid and variant transthyretins. Am J Pathol 1996;148:351-354.
2. Sekijima Y, Hammarstrom P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, Ikeda S, Kelly JW. Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology. Lab Invest 2003;83:409-417.
3. Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid: J Protein Folding Dis 2003;10:160-184.
4. Herrick MK, DeBruyne K, Horoupian DS, Skare J, Vanefsky MA, Ong T. Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. Neurology 1996;47:988-992.
5. Peterson RB, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P. Transthyretin amyloidosis: A new mutation associated with dementia. Ann Neurol 1997;41;307-313.
6. Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T. Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD18G). Am J Pathol 1996;148: 361-366.
7. Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, Yanagihara T. Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in Japanese kindred. Brain 1992;115:1275-1289.
8. Brett M, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, Morgan-Hughes JA. Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain 1999;122:183-190.
9. Hanyu N, Ikeda S, Nakadai A, Yanagisawa N, Powell HC. Peripheral nerve pathological findings in familial amyloid polyneuropathy: A correlative study of proximal sciatic nerve and sural nerve lesions. Ann Neurol 1989;25:340-350.
10. Jedrzejowska H. Some histological aspects of amyloid polyneuropathy. Acta Neuropath 1977;37:119-125.
11. Said G, Ropert A, Faux N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: A clinicopathologic study. Neurology 1984;34:1025-1032.
12. Horowitz S, Thomas C, Gruener G, Nand S, Shea JF. MR of leptomeningeal spinal and posterior fossa amyloid. AJNR 1998;19:900-902.
13. Mendell JR, Barohn RJ, Freimer ML, Kissel JT, King W, Nagaraja HN, Rice R, Campbell WW, Donofrio PD, Jackson CE, et al. Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy. Neurology 2001;56:445-449.
14. van Doorn PA, Brand A, Strengers PFW, Meulstee J, Vermeulen M. High-dose intravenous immunoglobulin treatment in chronic inflammatory demyelinating polyneuropathy: A double-blind, placebo-controlled, crossover study. Neurology 1990;40:209-212.
15. Thompson N, Choudhary P, Hughes RAC, Quinlivan RM. A novel trial design to study the effect of intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy. J Neurol 1996;243:280-285.
16. Yazaki M, Yamashita T, Kincaid JC, Scott JR, Auger RG, Dyck PJ, Benson MD. Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25. Muscle Nerve 2002;25:244-250.
17. Briemberg HR, Amato AA. Transthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies. Muscle Nerve 2004;29:318-322.
18. Yoshinaga T, Takei Y, Katayanagi K, Ikeda S. Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene. Amyloid: J Protein Folding Dis 2004;11:56-60.
19. Okayama M, Goto I, Ogata J, Omae T, Yoshida I, Inomata H. primary amyloidosis with familial vitreous opacities. Arch Intern Med 1978;138:105-111.
20. Jin K, Takahashi T, Nakazaki H, Date Y, Nakazato M, Tominaga T, Itoyama Y, Ikeda S. Familial leptomeningeal amyloidosis with a tranethyretin variant Asp18Gly representing repeated subarachonoid haemorrhages with superficial siderosis. J Neurol Neurosurg Psychiatry 2004;75:1463-1466.
21. Mitsuhashi S, Yazaki M, Tokuda T, Yamamoto K, Ikeda S. MRI analysis on a patient with the V30M mutation is characteristic of leptomeningeal amyloid. Amyloid: J Protein Folding Dis 2004;11:265-267.
22. Garzuly F, Wisniewski T, Britting F, Budka H. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly). Neurology 1996;47:1562-1567.
23. Mascalchi M, Salvi F, Pirini MG, D'Errico A, Ferlini A, Lolli F, Plasmati R, Tessa C, Villari N, Tassinari CA. Transthyretin amyloidosis and superficial siderosis of the CNS. Neurology 1999;53:1498-1503.