Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54

Nagasaka, Takamura; Togashi, Shinji; Watanabe, Harue; Iida, Haruyasu; Nagasaka, Kaori; Nakamura, Yuki; Miwa, Michiaki; Kobayashi, Fumikazu; Shindo, Kazumasa; Shiozawa, Zenji

doi:10.1016/j.jns.2008.09.011

Cited by 24 publications

(18 citation statements)

References 32 publications

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“…A secretion of variant TTR from the choroid plexus or the blood-brain barrier may play a significant role in small depositions of amyloid in the brain [4].…”

Section: Discussionmentioning

confidence: 99%

“…Additionally, the mechanism underlying nerve impairment may be directly related to the invasion of amyloid, although whether the destruction is supported by another factor such as neurotoxicity or apoptosis is unclear [4]. Evidence that free amyloid or an amyloid intermediate has a cytotoxic effect on FAP nerves has been presented [15].…”

Section: Discussionmentioning

confidence: 99%

“…Genetic differences lead to the heterogeneity of clinical manifestations due to the variant deposition of amyloid fibrils. The distribution of variant TTR is not necessarily the same as the region of synthesis and degradation [4].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family

Liu

Guo

Zhou

et al. 2011

Journal of the Neurological Sciences

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“…A secretion of variant TTR from the choroid plexus or the blood-brain barrier may play a significant role in small depositions of amyloid in the brain [4].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family

Liu

Guo

Zhou

et al. 2011

Journal of the Neurological Sciences

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“…FAP has a widely variable geographical distribution, with the affected countries including Portugal, Japan, Scandinavian countries, and the Americas [60]. FAP has a very heterogeneous clinical presentation [61][62][63] with the age of onset varying between 20 and 70 years, and the peripheral nervous system is most commonly affected. The initial symptom is usually a sensory peripheral neuropathy in the lower limbs, with pain and temperature sensation being the most severely affected.…”

Section: Hereditary or Familial Amyloidosismentioning

confidence: 99%

Currents Concepts on the Immunopathology of Amyloidosis

Bhat

Selmi

Naguwa

et al. 2009

Clinic Rev Allerg Immunol

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Amyloidosis is defined as the extracellular accumulation at systemic or organ-specific level of insoluble low molecular weight protein fibrils manifesting a beta pleated sheet configuration and a characteristic staining pattern. Several different types of proteins may lead to this phenomenon, and amyloidosis is defined by the biochemical nature of the protein in the deposits and further classified according to whether the deposits are localized or systemic, acquired or inherited, and by the resulting clinical phenotype. Amyloidosis includes subtypes such as light chain, associated with serum amyloid A protein, heritable and familial forms, dialysis-related disease, and organ-specific conditions. The pathogenesis and clinical features of these clinical and pathological entities will be critically discussed in this review article.

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“…Various atypical clinical presentations are reported (2)(3)(4)(5), and the absence of amyloid deposits in the nerve biopsy specimen requires another measure to attain the correct diagnosis. In this report, we describe an upperlimb-predominant FAP patient with rare mutation of amyloidogenic transthyretin (ATTR), whose diagnosis was initially difficult, but was later suggested by the findings of lung partial resection conducted for other diagnostic purposes.…”

Section: Introductionmentioning

confidence: 99%

A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation

et al. 2010

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We present a patient of familial amyloid polyneuropathy (FAP) with predominant upper-limb involvement, the pattern of which resembled a mononeuropathy multiplex pattern. Sural nerve biopsy failed to diagnose the disorder, but lung partial resection performed later for other diagnostic purposes suggested FAP. A rare mutation in the transthyretin gene (S50R) was subsequently confirmed. Diagnostic challenges of FAP with atypical clinical presentations, including difficulties in pathological diagnosis, are discussed with a review of the literature.

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Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54

Cited by 24 publications

References 32 publications

Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family

Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family

Currents Concepts on the Immunopathology of Amyloidosis

A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation

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