An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54

Togashi, Shinji; Watanabe, Harue; Nagasaka, Takamura; Shindo, Kazumasa; Shiozawa, Zenji; Maeda, Shuichiro; Tawata, Masato; Onaya, Toshimasa

doi:10.1212/wnl.53.3.637

Cited by 22 publications

(27 citation statements)

References 9 publications

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“…The second family with this mutation was from Costa Rica and exhibited severe motor, sensory and autonomic neuropathies, vitreous opacity, and cardiac failure [24]. As all reported patients died before the age of 40 years, the authors concluded that Glu54Lys causes severe FAP [23,24]. In line with previous findings, five of six affected members of the present family died before the age of 45 years.…”

Section: Discussionsupporting

confidence: 89%

“…The Glu54Lys mutation was first described in a Japanese family who presented with early autonomic symptoms (constipation, diarrhea and vomiting as the prominent symptoms), vitreous opacity, and heart failure [23] ( Table 2). The second family with this mutation was from Costa Rica and exhibited severe motor, sensory and autonomic neuropathies, vitreous opacity, and cardiac failure [24].…”

Section: Discussionmentioning

confidence: 99%

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Three Turkish families with different transthyretin mutations

Bekircan-Kurt

Güneş

Yılmaz

et al. 2015

Neuromuscular Disorders

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Three Turkish families with different transthyretin mutations

Bekircan-Kurt

Güneş

Yılmaz

et al. 2015

Neuromuscular Disorders

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“…While our research was in progress, a Japanese group described a case of an aggressive FAP in a 32-year-old male associated with autonomic failure and amyloid deposits that specifically stained with anti-TTR antibodies in histological preparations [Togashi et al, 1999]. The same mutation was identified on exon 3 with SSCP analysis followed by sequencing of the proband's genomic DNA and detection of the heterozygous band in the sequencing gel.…”

Section: Discussionmentioning

confidence: 93%

A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)

Busse

Sánchez

Monterroso

et al. 2004

American J of Med Genetics Pt A

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Four affected siblings in a Costa Rican family presented an aggressive polyneuropathy with widespread involvement of many visceral organs and onset during the third decade of life with rapid loss of muscle mass in the lower limbs and severe dysautonomy. The medical histories include vitreous opacity, cardiac enlargement, dermal and gastrointestinal infiltration, and autonomic dysfunction including circulatory compromise and gastrointestinal disturbances. Histological studies using Congo red stain and immunohistochemical assays with antibodies against the transthyretin (TTR) protein showed widespread deposition of amyloid in extracellular areas, including dermis and gastrointestinal lamina propia, endo‐ and perineural spaces, and vascular walls. A mutation search in the transthyretin (ttr) gene was performed seeking the cause of this severe form of familial amyloidotic polyneuropathy (FAP). We applied single‐stranded conformational polymorphism (SSCP)‐analyses followed by sequencing of the four exons of the ttr gene, revealing a point mutation in exon 3, a G to A transition that causes a Glu54Lys codon change. Western blots of plasma proteins incubated with anti‐transthyretin antibodies after gel electrophoresis provided separation of wild‐type and mutant TTR protein in affected family members. © 2004 Wiley‐Liss, Inc.

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“…No detailed systemic pathological findings proven by autopsy identified FAP with TTR Glu54Lys. In this report, we present the clinical features and autopsy findings of the progressive form of FAP type 1 in a family with a rare substitution of the variant TTR gene Glu54Lys [5] and compared with the common type of FAP with TTRMet30 and the others. Free of amyloid in the kidney is the major manifestation in autopsy.…”

Section: Introductionmentioning

confidence: 99%