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Akira Yoshioka, MD; Yoko Yamaya, MD; Shinji Saiki, MD; Genjiro Hirose, MD; Kohei Shimazaki, MD; Masaaki Nakamura, MD; Yukio Ando, MD

Arch Neurol. 2001;58:1914-1918.

Objective  To report a case of familial amyloid polyneuropathy homozygous for the amyloidogenic transthyretin (ATTR) Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.

Methods  Mass spectrometry analysis and polymerase chain reaction–restricting fragment length polymorphism were performed. A right sural nerve biopsy specimen was obtained for histological investigation.

Setting  Academic medical center.

Results  A 56-year-old Japanese man living in a local town (Nakajima, Japan) in Ishikawa Prefecture, a nonendemic area of type I familial amyloidotic polyneuropathy, had vitreous amyloidosis, motor-dominant sensorimotor polyneuropathy, erectile dysfunction, and urinary incontinence. He had neither orthostatic hypotension nor indolent diarrhea. Restriction enzyme analysis with EcoT22 I of amplified DNA and mass spectrometry analysis revealed homozygosity for ATTR Val30Met. Of 8 family members, 5 were evaluated and found to be heterozygous for ATTR Val30Met; a family history found no relative with the similar neurologic disorders. The sural nerve biopsy specimen showed focal edema and an amyloid deposit in the subperineural tissue, associated with moderate loss of myelinated and unmyelinated fibers.

Conclusions  In addition to the findings characteristic of homozygosity for ATTR Val30Met such as vitreous amyloidosis and relatively less autonomic involvements, this case had the unique findings of motor-dominant sensorimotor polyneuropathy and unusual sural nerve biopsy specimen results.

From the Department of Neurology, Kanazawa Medical University, Uchinada (Drs Yoshioka, Yamaya, Saiki, and Hirose); Department of Internal Medicine, Hamano Hospital, Nanao City (Dr Shimazaki); and the Department of Laboratory Medicine, Kumamoto University School of Medicine, Kumamoto (Drs Nakamura and Ando), Japan.

Corresponding author: Akira Yoshioka, MD, Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0293, Japan (e-mail: a-yos{at}kanazawa-med.ac.jp).

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