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

Abstract

A growing body of literature has described familial leptomeningeal amyloidosis, a rare phenotype resulting from deposition of transthyretin (TTR) amyloid within the leptomeninges. We report herein the case of a patient with leptomeningeal amyloidosis presenting with hearing loss, asymmetrical polyneuropathy and sensory ataxia. This is the first Japanese case displaying TTR mutation at codon 25, replacing alanine with threonine. Neurophysiological examinations suggested demyelinating polyradiculoneuropathy, which improved dramatically after high-dose intravenous immunoglobulin treatment. Demyelinating polyneuropathy in our patient may be attributable to massive leptomeningeal amyloidosis, and no systemic organ involvement was identified. These characteristic clinical manifestations may have resulted from the Ala25Thr TTR gene mutation.

• Authors: Yuko Shimizu, Megumi Takeuchi, Miyuki Matsumura, Takahiko Tokuda, Makoto Iwata
• Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis (Amyloid) Vol. 13 Issue 1 Pg. 37-41 (Mar 2006) ISSN: 1350-6129 [Print] England
• PMID: 16690499 (Publication Type: Case Reports, Journal Article)

Chemical References

• Immunoglobulins, Intravenous
• Prealbumin
• Threonine
• Alanine

Topics

• Alanine (genetics)
• Amino Acid Substitution (genetics)
• Amyloid Neuropathies (genetics, pathology, therapy)
• Amyloidosis (diagnosis, pathology)
• Brain (pathology)
• Brain Stem (pathology)
• Cerebellum (pathology)
• Humans
• Immunoglobulins, Intravenous (therapeutic use)
• Male
• Meninges (pathology)
• Middle Aged
• Point Mutation
• Prealbumin (genetics)
• Threonine (genetics)