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

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

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

Yuko Shimizu,Megumi Takeuchi,Miyuki Matsumura,Takahiko Tokuda,Makoto Iwata,

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.

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

Y Shimizu,M Takeuchi,M Matsumura,T Tokuda,M Iwata,

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

PUBLICATION TYPE: Journal Article

Journal: Amyloid : the international journal of experimenta

VOLUME: 13

Page Numbers: 37-41

Journal Abbreviation: Amyloid

ISSN: 1350-6129

DAY: 12

MONTH: Mar

YEAR: 2006

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

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LANGUAGE: eng

NlmUniqueID: 9433802

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AFFILIATION: Department of Neurology, Neurological Institute, Tokyo Women's Medical University School of Medicine, Tokyo, Japan. yshimizu@nij.twmu.ac.jp

Country: United States

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MEDLINETA: Amyloid

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