A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

Masahide Yazaki; John Varga; P. James B. Dyck; Merrill D. Benson

doi:10.3109/13506120209114105

A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

Masahide Yazaki, John Varga, P. James B. Dyck, Merrill D. Benson

Neurology

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Abstract

We report a 40-year-old woman with a new transthyretin (TTR) variant, glutamine replacing leucine at residue 55 (Leu55Gln), who showed progressive somatic and autonomic neuropathy, glaucoma, and vitreous opacities. Symptoms of glaucoma appeared prior to the onset of the neuropathy. Sural nerve biopsy revealed amyloid deposition in the endoneurium, and immunohistochemical analysis was positive with anti-human TTR. Sequencing of the patient's DNA revealed the substitution of A for T at the second position of codon 55 of the TTR gene indicating an amino acid change from leucine to glutamine.

Original language	English (US)
Pages (from-to)	268-271
Number of pages	4
Journal	Amyloid
Volume	9
Issue number	4
DOIs	https://doi.org/10.3109/13506120209114105
State	Published - Dec 2002

Keywords

Amyloidosis
Glaucoma
Polyneuropathy
Transthyretin

ASJC Scopus subject areas

Internal Medicine

Access to Document

10.3109/13506120209114105

Cite this

@article{4d19a81071344fc5a4a71c557d8663a8,

title = "A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis",

abstract = "We report a 40-year-old woman with a new transthyretin (TTR) variant, glutamine replacing leucine at residue 55 (Leu55Gln), who showed progressive somatic and autonomic neuropathy, glaucoma, and vitreous opacities. Symptoms of glaucoma appeared prior to the onset of the neuropathy. Sural nerve biopsy revealed amyloid deposition in the endoneurium, and immunohistochemical analysis was positive with anti-human TTR. Sequencing of the patient's DNA revealed the substitution of A for T at the second position of codon 55 of the TTR gene indicating an amino acid change from leucine to glutamine.",

keywords = "Amyloidosis, Glaucoma, Polyneuropathy, Transthyretin",

author = "Masahide Yazaki and John Varga and Dyck, {P. James B.} and Benson, {Merrill D.}",

note = "Funding Information: This work was supported by NIH grants PHS AG 10 133, DK42 1 1 1, and RR-00750, Veterans Affairs Medical Research, the Marion E. Jacobson Fund, and the Machado Family Research Fund.",

year = "2002",

month = dec,

doi = "10.3109/13506120209114105",

language = "English (US)",

volume = "9",

pages = "268--271",

journal = "Amyloid",

issn = "1350-6129",

publisher = "Informa Healthcare",

number = "4",

}

TY - JOUR

T1 - A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

AU - Yazaki, Masahide

AU - Varga, John

AU - Dyck, P. James B.

AU - Benson, Merrill D.

N1 - Funding Information: This work was supported by NIH grants PHS AG 10 133, DK42 1 1 1, and RR-00750, Veterans Affairs Medical Research, the Marion E. Jacobson Fund, and the Machado Family Research Fund.

PY - 2002/12

Y1 - 2002/12

N2 - We report a 40-year-old woman with a new transthyretin (TTR) variant, glutamine replacing leucine at residue 55 (Leu55Gln), who showed progressive somatic and autonomic neuropathy, glaucoma, and vitreous opacities. Symptoms of glaucoma appeared prior to the onset of the neuropathy. Sural nerve biopsy revealed amyloid deposition in the endoneurium, and immunohistochemical analysis was positive with anti-human TTR. Sequencing of the patient's DNA revealed the substitution of A for T at the second position of codon 55 of the TTR gene indicating an amino acid change from leucine to glutamine.

AB - We report a 40-year-old woman with a new transthyretin (TTR) variant, glutamine replacing leucine at residue 55 (Leu55Gln), who showed progressive somatic and autonomic neuropathy, glaucoma, and vitreous opacities. Symptoms of glaucoma appeared prior to the onset of the neuropathy. Sural nerve biopsy revealed amyloid deposition in the endoneurium, and immunohistochemical analysis was positive with anti-human TTR. Sequencing of the patient's DNA revealed the substitution of A for T at the second position of codon 55 of the TTR gene indicating an amino acid change from leucine to glutamine.

KW - Amyloidosis

KW - Glaucoma

KW - Polyneuropathy

KW - Transthyretin

UR - http://www.scopus.com/inward/record.url?scp=12244299868&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=12244299868&partnerID=8YFLogxK

U2 - 10.3109/13506120209114105

DO - 10.3109/13506120209114105

M3 - Article

C2 - 12557757

AN - SCOPUS:12244299868

SN - 1350-6129

VL - 9

SP - 268

EP - 271

JO - Amyloid

JF - Amyloid

IS - 4

ER -

A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this