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Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.

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Title: Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.
Authors: Tozza, Stefano (AUTHOR), Palumbo, Giovanni (AUTHOR), Severi, Daniele (AUTHOR), Iovino, Aniello (AUTHOR), Spina, Emanuele (AUTHOR), Aruta, Francesco (AUTHOR), Cassano, Emanuele (AUTHOR), Iodice, Rosa (AUTHOR), Dubbioso, Raffaele (AUTHOR), Ruggiero, Lucia (AUTHOR), Nolano, Maria (AUTHOR), Santoro, Lucio (AUTHOR), Manganelli, Fiore (AUTHOR)
Source: Neurological Sciences. Apr2024, Vol. 45 Issue 4, p1685-1689. 5p.
Subjects: Cardiac amyloidosis, Nerve conduction studies, Electrophysiology, Neuropathy, Transthyretin, Amyloidosis
Abstract: Introduction: Hereditary transthyretin-mediated amyloidosis (ATTRv, v for variant) is a progressive disease caused by mutations in the TTR gene, leading to sensory-motor, axonal and length-dependent neuropathy. However, some patients may show variable electrophysiological pattern. The aim of this study was to evaluate the electrophysiological features of TTR amyloid neuropathy at the time of the first nerve conduction study (NCS) to assess whether there were distinguishing features useful for early diagnosis. Methods: We retrospectively revised the first electrophysiological findings of ATTRv patients, and we categorized the neuropathy based on nerve conduction slowing, type of involved fibres and distribution pattern of PNS involvement. Cluster analysis was performed to evaluate the prevalence of neuropathy features between the early and late stage of disease, based on disease duration and disability burden assessed by NIS. Results: We recruited 33 patients (27 males) with mean age 63.9 ± 10.8 years, mean disease duration 2.8 ± 2.4 years and mean NIS 47.6 ± 41.8. Overall, the frequency analysis showed that the most common features of ATTRv neuropathy included the categories of axonal, sensory-motor and neuronopathic-like pattern. This electrophysiological pattern of PNS involvement was constant in patients in late stage of disease, whereas ATTRv patients in early stage of disease displayed variable electrophysiological pattern of PNS involvement. Discussion: Our findings demonstrated that ATTRv neuropathy may present at first NCS in a variable way, and it changes over the course of disease. Such heterogeneity makes the suspicion of ATTRv even more challenging at the time of first electrophysiological examination. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.
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  Data: <searchLink fieldCode="AR" term="%22Tozza%2C+Stefano%22">Tozza, Stefano</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Palumbo%2C+Giovanni%22">Palumbo, Giovanni</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Severi%2C+Daniele%22">Severi, Daniele</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Iovino%2C+Aniello%22">Iovino, Aniello</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spina%2C+Emanuele%22">Spina, Emanuele</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Aruta%2C+Francesco%22">Aruta, Francesco</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cassano%2C+Emanuele%22">Cassano, Emanuele</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Iodice%2C+Rosa%22">Iodice, Rosa</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dubbioso%2C+Raffaele%22">Dubbioso, Raffaele</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ruggiero%2C+Lucia%22">Ruggiero, Lucia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nolano%2C+Maria%22">Nolano, Maria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Santoro%2C+Lucio%22">Santoro, Lucio</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Manganelli%2C+Fiore%22">Manganelli, Fiore</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Apr2024, Vol. 45 Issue 4, p1685-1689. 5p.
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  Data: <searchLink fieldCode="DE" term="%22Cardiac+amyloidosis%22">Cardiac amyloidosis</searchLink><br /><searchLink fieldCode="DE" term="%22Nerve+conduction+studies%22">Nerve conduction studies</searchLink><br /><searchLink fieldCode="DE" term="%22Electrophysiology%22">Electrophysiology</searchLink><br /><searchLink fieldCode="DE" term="%22Neuropathy%22">Neuropathy</searchLink><br /><searchLink fieldCode="DE" term="%22Transthyretin%22">Transthyretin</searchLink><br /><searchLink fieldCode="DE" term="%22Amyloidosis%22">Amyloidosis</searchLink>
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  Data: Introduction: Hereditary transthyretin-mediated amyloidosis (ATTRv, v for variant) is a progressive disease caused by mutations in the TTR gene, leading to sensory-motor, axonal and length-dependent neuropathy. However, some patients may show variable electrophysiological pattern. The aim of this study was to evaluate the electrophysiological features of TTR amyloid neuropathy at the time of the first nerve conduction study (NCS) to assess whether there were distinguishing features useful for early diagnosis. Methods: We retrospectively revised the first electrophysiological findings of ATTRv patients, and we categorized the neuropathy based on nerve conduction slowing, type of involved fibres and distribution pattern of PNS involvement. Cluster analysis was performed to evaluate the prevalence of neuropathy features between the early and late stage of disease, based on disease duration and disability burden assessed by NIS. Results: We recruited 33 patients (27 males) with mean age 63.9 ± 10.8 years, mean disease duration 2.8 ± 2.4 years and mean NIS 47.6 ± 41.8. Overall, the frequency analysis showed that the most common features of ATTRv neuropathy included the categories of axonal, sensory-motor and neuronopathic-like pattern. This electrophysiological pattern of PNS involvement was constant in patients in late stage of disease, whereas ATTRv patients in early stage of disease displayed variable electrophysiological pattern of PNS involvement. Discussion: Our findings demonstrated that ATTRv neuropathy may present at first NCS in a variable way, and it changes over the course of disease. Such heterogeneity makes the suspicion of ATTRv even more challenging at the time of first electrophysiological examination. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1007/s10072-023-07140-w
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        Text: English
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      – SubjectFull: Cardiac amyloidosis
        Type: general
      – SubjectFull: Nerve conduction studies
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      – SubjectFull: Electrophysiology
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