Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy

C. J. Klein; M. Nakumura; D. R. Jacobson; M. Q. Lacy; M. D. Benson; Ronald C. Petersen

doi:10.1212/WNL.51.5.1462

Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy

C. J. Klein, M. Nakumura, D. R. Jacobson, M. Q. Lacy, M. D. Benson, Ronald C. Petersen

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

19 Scopus citations

Abstract

A 32-year-old man of Irish descent presented with severe progressive headache and sensorineural hearing loss. MRI/magnetic resonance angiography head scans were normal. A length-dependent sensorimotor peripheral neuropathy with autonomic dysfunction predated these symptoms. Systemic organ involvement and transthyretin (TTR) amyloid immunostaining of bone marrow and fat aspirate were documented. Direct DNA sequencing revealed both the normal TTT (phenylalanine) and a new variant TCT (serine) at position 44 of the TTR gene. This case expands the genotypic and phenotypic variability within TTR amyloidosis.

Original language	English (US)
Pages (from-to)	1462-1464
Number of pages	3
Journal	Neurology
Volume	51
Issue number	5
DOIs	https://doi.org/10.1212/WNL.51.5.1462
State	Published - Nov 1998

ASJC Scopus subject areas

Clinical Neurology

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title = "Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy",

abstract = "A 32-year-old man of Irish descent presented with severe progressive headache and sensorineural hearing loss. MRI/magnetic resonance angiography head scans were normal. A length-dependent sensorimotor peripheral neuropathy with autonomic dysfunction predated these symptoms. Systemic organ involvement and transthyretin (TTR) amyloid immunostaining of bone marrow and fat aspirate were documented. Direct DNA sequencing revealed both the normal TTT (phenylalanine) and a new variant TCT (serine) at position 44 of the TTR gene. This case expands the genotypic and phenotypic variability within TTR amyloidosis.",

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year = "1998",

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AU - Klein, C. J.

AU - Nakumura, M.

AU - Jacobson, D. R.

AU - Lacy, M. Q.

AU - Benson, M. D.

AU - Petersen, Ronald C.

PY - 1998/11

Y1 - 1998/11

N2 - A 32-year-old man of Irish descent presented with severe progressive headache and sensorineural hearing loss. MRI/magnetic resonance angiography head scans were normal. A length-dependent sensorimotor peripheral neuropathy with autonomic dysfunction predated these symptoms. Systemic organ involvement and transthyretin (TTR) amyloid immunostaining of bone marrow and fat aspirate were documented. Direct DNA sequencing revealed both the normal TTT (phenylalanine) and a new variant TCT (serine) at position 44 of the TTR gene. This case expands the genotypic and phenotypic variability within TTR amyloidosis.

AB - A 32-year-old man of Irish descent presented with severe progressive headache and sensorineural hearing loss. MRI/magnetic resonance angiography head scans were normal. A length-dependent sensorimotor peripheral neuropathy with autonomic dysfunction predated these symptoms. Systemic organ involvement and transthyretin (TTR) amyloid immunostaining of bone marrow and fat aspirate were documented. Direct DNA sequencing revealed both the normal TTT (phenylalanine) and a new variant TCT (serine) at position 44 of the TTR gene. This case expands the genotypic and phenotypic variability within TTR amyloidosis.

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Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy

Abstract

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