Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features

Koike, Haruki; Sobue, Gen

doi:10.1517/17530059.2010.495384

Cited by 11 publications

(16 citation statements)

References 64 publications

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“…These observations suggest that FAP ATTR Val30Met may not be as rare as was previously thought 9 17 18. In fact, the existence of a global population of undiagnosed patients with FAP ATTR Val30Met cannot be ruled out 11 18. Therefore, a diagnosis of neuropathy with an undetermined aetiology, particularly when occurring among the older people, should prompt the clinical consideration of FAP ATTR Val30Met 18…”

Section: Introductionmentioning

confidence: 82%

“…Although patients with FAP ATTR Val30Met are generally considered to be concentrated in geographically restricted areas of Japan, Portugal and Sweden,1–4 6 7 11 recent analyses have revealed a late-onset form of this type of FAP distributed outside these endemic areas 5 11–13. The penetrance rate of FAP ATTR Val30Met is reported to differ among various regions 4 11 12 14 15. Recent epidemiological studies suggest the presence of new endemic foci in Ishikawa Prefecture in Japan as well as in the Mediterranean country of Cyprus 14 16.…”

Section: Introductionmentioning

confidence: 99%

“…Given that over 100 different mutations in the TTR gene have been reported, extensive phenotypic variation should be taken into consideration when assessing the natural history of FAP 6–8 11. Even patients with specific mutation, such as the Val30Met mutation, show variable clinicopathological features depending on the age of onset and geographical location 11 12 25.…”

Section: Introductionmentioning

confidence: 99%

“…Even patients with specific mutation, such as the Val30Met mutation, show variable clinicopathological features depending on the age of onset and geographical location 11 12 25. Such findings suggest that the evaluation of natural disease history should be performed within respective phenotypic groups.…”

Section: Introductionmentioning

confidence: 99%

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Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

Koike

Tanaka

Hashimoto

et al. 2012

J Neurol Neurosurg Psychiatry

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191

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Objective The objective of this study was to elucidate the natural history of late-onset transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) in non-endemic areas. Methods The authors retrospectively assessed the development of major clinical landmarks and abnormalities of nerve conduction and cardiac examination indices in 50 patients with an age of onset older than 50 years and no relationship to endemic foci.

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Section: Introductionmentioning

confidence: 82%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

Koike

Tanaka

Hashimoto

et al. 2012

J Neurol Neurosurg Psychiatry

Self Cite

175

191

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show abstract

“…There are two major types of ATTRv amyloidosis with Val30Met mutations (ATTR Val30Met amyloidosis) in Japan; one is the early‐onset type (ranging from late 20s to early 40s) prevalent in conventional endemic foci in Kumamoto and Nagano prefectures, and another is the late‐onset type (more than 50 years old) prevalent in the non‐endemic areas . The early‐onset Val30Met cases from endemic foci are distinguished by marked dysautonomia, dissociated sensory loss defined as a predominant loss of thermal and pain sensations, and cardiac conduction defects requiring pacemaker implantation . In contrast, these clinical features are not conspicuous in late‐onset Val30Met cases from the non‐endemic areas, particularly in the earlier phase of the disease .…”

Section: Clinical Featuresmentioning

confidence: 99%

Clinicopathological spectrum and recent advances in the treatment of hereditary transthyretin amyloidosis

Koike

Fukami

Nishi

et al. 2019

Neurology & Clinical Neurosc

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Hereditary transthyretin (ATTRv) amyloidosis, also known as familial amyloid polyneuropathy, is a disease caused by the systemic deposition of variant transthyretin (TTR). Although this disease was primarily indigenous to endemic foci in Portugal, Japan, and Sweden, its prevalence has increased throughout the world. The clinical phenotypes of ATTRv amyloidosis are diverse, including neuropathy, cardiomyopathy, and oculoleptomeningeal involvement as the predominant features, depending on the mutation type and age of onset. Val30Met, one of the most common TTR mutations, exhibits varying characteristic features in the early‐onset patients from conventional endemic foci and the late‐onset patients from non‐endemic areas. Autonomic dysfunctions and dissociated sensory loss are the characteristic features of the former, whereas motor dysfunctions and loss of all sensory modalities are conspicuous in the latter. Distortion and atrophy of the Schwann cells due to the formation of amyloid fibrils seem to cause predominant small‐fiber loss in the early‐onset patients, while other mechanisms, such as microangiopathy and the toxicity of TTR oligomers, may contribute to nerve fiber loss in the late‐onset patients. In addition to liver transplantation, novel and less invasive disease‐modifying therapies, such as TTR stabilizers, short interfering RNA, and antisense oligonucleotide, have been shown to be effective in ATTRv amyloidosis patients. Given their ability to ameliorate ATTRv amyloidosis, early diagnosis and treatment are required. Physicians should be aware of the diversity in ATTRv amyloidosis because this disease can be misdiagnosed with other diseases such as chronic inflammatory demyelinating polyneuropathy and immunoglobulin light‐chain amyloidosis.

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Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis

et al. 2012

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Introduction: Information related to the long‐term follow‐up of neuropathy in patients with familial amyloid polyneuropathy after liver transplantation is still scarce. Methods: We describe the neuropathic features of 3 patients with the transthyretin Val30Met mutation. Each patient underwent liver transplantation at an early stage of neuropathy, as indicated by the absence of motor dysfunction and relative preservation of myelinated fibers in sural nerve biopsy specimens. Results: Although the patient with late‐onset disease (at age 60 years) presented with the least amount of amyloid deposition, he had neuropathic progression after liver transplantation. An older early‐onset (at age 40 years) patient reported a slight exacerbation of both somatic and autonomic neuropathic symptoms 10 years after transplantation. However, the younger early‐onset (at age 28 years) patient did not exhibit characteristics suggestive of neuropathy 7 years after transplantation. Conclusion: Aging may determine the progression of neuropathy after liver transplantation. Muscle Nerve, 2012

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Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features

Abstract: Awareness of the possibility of sporadic late-onset FAP ATTR Val30Met is needed at the time of the initial clinical and electrophysiological evaluation of neuropathy with an undetermined etiology to avoid a missed diagnosis.

Cited by 11 publications

References 64 publications

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

Clinicopathological spectrum and recent advances in the treatment of hereditary transthyretin amyloidosis

Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis

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