MRI analysis on a patient with the V30M mutation is characteristic of leptomeningeal amyloid

Amyloid

Volumn 11, Issue 4, 2004, Pages 265-267

  Mitsuhashi, Shigeaki ^a   Yazaki, Masahide ^a   Tokuda, Takahiko ^a   Yamamoto, Kanji ^a   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Gadolinium enhanced MRI; Homozygous transthyretin mutation; Leptomeningeal amyloidosis

Indexed keywords

AMYLOID PROTEIN; GADOLINIUM; METHIONINE; PREALBUMIN; VALINE;

ADULT; AMYLOID NEUROPATHY; ARTICLE; AUTONOMIC DYSFUNCTION; BRAIN; CASE REPORT; CONTRAST ENHANCEMENT; EYE; GENE MUTATION; HOMOZYGOSITY; HUMAN; LEPTOMENINX; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; SENSITIVITY ANALYSIS; SPINAL CORD; SURFACE PROPERTY; SYMPTOM; VITRECTOMY; VITREOUS OPACITY;

AMINO ACID SUBSTITUTION; AMYLOID NEUROPATHIES; BRAIN; CATARACT; GADOLINIUM; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; METHIONINE; MIDDLE AGED; POINT MUTATION; PREALBUMIN; SPINAL CORD; VALINE;

EID: 12244295501     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.1080/13506120400000749     Document Type: Article

References (7)

1. Ikeda S, Nakazato M, Ando Y and Sobue G (2002). Familial transthyretin-type amyloid polyneuropathy in Japan. Clinical and genetic heterogenity. Neurology 58, 1001-1007
2. Herrick MK, DeBruyne K, Horoupian DS, Skare J, Vanefsky MA and Ong T (1996). Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. Neurology 47, 988-992
3. Yoshinaga T, Takei Y, Katayanagi K and Ikeda S (2003). Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene. Amyloid: J Protein Folding Disord 11, 50-55
4. Ikeda S, Nakano T, Yanagisawa N, Nakazato M and Tsukagoshi H (1992). Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Eur Neurol 32, 308-313
5. Horowitz S, Thomas C, Gruener G, Nand S and Shea JF (1998). MR of leptomeningeal spinal and posterior fossa amyloid. Am J Neuroradiol 19, 900-902
6. Brett M, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, and Morgan-Hughes JA (1999). Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain 122, 183-190
7. Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD and Donat JR (2003). Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology 60, 1625-1630