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

Christopher Jon Klein, M. Nakumura, D. R. Jacobson, Martha Lacy, M. D. Benson, Ronald Carl Petersen

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)1462-1464
Number of pages3
JournalNeurology
Volume51
Issue number5
StatePublished - Nov 1998

Fingerprint

Prealbumin
Peripheral Nervous System Diseases
Hearing Loss
Serine
Headache
Sensorineural Hearing Loss
Magnetic Resonance Angiography
Phenylalanine
DNA Sequence Analysis
Amyloid
Bone Marrow
Fats
Head
Genes
Amyloidosis, Hereditary, Transthyretin-Related

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy. / Klein, Christopher Jon; Nakumura, M.; Jacobson, D. R.; Lacy, Martha; Benson, M. D.; Petersen, Ronald Carl.

In: Neurology, Vol. 51, No. 5, 11.1998, p. 1462-1464.

Research output: Contribution to journalArticle

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