Electrophysiological demyelinating features in hereditary ATTR amyloidosis

Ohashi, Nobuhiko; Kodaira, Minori; Morita, Hiroshi; Sekijima, Yoshiki

doi:10.1080/13506129.2018.1564903

Cited by 14 publications

(17 citation statements)

References 29 publications

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“…In our cohort, we confirmed that 75.0% of the cases had sensory‐motor axonal neuropathies in the electrophysiological studies, while 20.5% of the cases showed mixed neuropathies with demyelinating patterns, which made it difficult to differentiate ATTR from some acquired demyelinating neuropathies 61 . Isolated CTS has been found in our cohort, which could be an early neuropathy pattern of ATTR 4,5 .…”

Section: Discussionsupporting

confidence: 73%

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Wang

et al. 2021

Ann Clin Transl Neurol

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Objective This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China. Methods Fifty‐four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the TTR gene. Sural nerve biopsies were performed in 40 of these cases. The clinical and electrophysiological data were retrospectively collected and analyzed. Results The male/female ratio was 42:12. The average age of patients at the onset of the disease was 47.8 ± 13.0 years. The late‐onset type occurred in 29 cases (53.7%). Twenty‐two probands (56.4%) had a family history with ATTR. The initial symptoms were limb paresthesia in 33 cases (61.1%), autonomic dysfunction in 15 cases (27.8%), and blurred vision in 6 cases (11.1%). A total of 22 different TTR mutations were identified, including Val30Met (25.6%) in 10 families in North China and Ala97Ser in 4 families (10.3%) in South China. Electrophysiological studies revealed general sensorimotor axonal polyneuropathy in 33/44 cases (75.0%), mixed neuropathy with axonal and demyelinating impairment features in 9/44 cases (20.5%) and isolated carpal tunnel syndrome in two cases. Sural nerve biopsies revealed positive Congo red staining in 16/40 cases (40.0%). Conclusion Chinese patients with ATTR exhibited heterogeneous TTR genotypes and clinical phenotypes. Val30Met remains the most common mutation type in mainland China.

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Section: Discussionsupporting

confidence: 73%

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Wang

et al. 2021

Ann Clin Transl Neurol

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“…For the diagnosis of definite CIDP, the diagnostic criteria proposed by the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society (EFNS/PNS) were used (4). The exclusion criteria of healthy controls were: [1] skin numbness or paresthesia; [2] muscle atrophy or weakness; [3] other disorders of the peripheral nervous system; and [4] chronic diseases of other organs (e.g., heart, brain, eye, and kidney).…”

Section: Subjectsmentioning

confidence: 99%

“…However, phenotypic variability and non-disease-specific symptoms or unknown family history often delay diagnosis and lead to misdiagnosis (1), including chronic inflammatory demyelinating polyneuropathy (CIDP). Some sporadic cases present with the demyelinating process in nerve conduction studies (NCSs) (2,3), which fulfills both clinical and electrophysiologic criteria for CIDP during initial evaluation (4). Since early differentiation of TTR-FAP from CIDP is important for the treatment of either disease, several electrophysiological studies were performed for differential diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy

Cheng

et al. 2021

Front. Neurol.

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Backgrounds: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is frequently misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) because of similar phenotypes in the two diseases. This study was intended to identify the role of nerve ultrasonography in evaluating TTR-FAP and CIDP.Methods: Eighteen patients with TTR-FAP, 13 patients with CIDP, and 14 healthy controls (HC) were enrolled in this study. Consecutive ultrasonography scanning was performed in six pairs of nerves of bilateral limbs with 30 sites. The cross-sectional areas (CSAs) and CSA variability data of different groups were calculated and compared.Results: Both TTR-FAP and CIDP showed larger CSAs at most sites of both upper and lower limbs than in HC groups. CIDP patients had larger CSAs than TTR-FAP patients at 8/15 of these sites, especially at U1-3, Sci2 sites (p < 0.01). However, the CSAs at above sites were not a credible index to differentiate TTR-FAP from CIDP with a low area under the curve (<0.8). The CSA variability of median nerves was significantly higher in CIDP than in TTR-FAP and HC groups, with high sensitivity (0.692) and specificity (0.833) to differentiate CIDP from TTR-FAP. The CSA variability of ulnar nerves was not significantly different between the three groups. For the TTR-FAP group, mean CSAs at each site were not correlated with different Coutinho stages, modified polyneuropathy disability, course of sensory motor peripheral neuropathy, Neuropathy Impairment Score, or Norfolk Quality of life-diabetic neuropathy score. The mean compound muscle action potential of ulnar nerves was negatively correlated with the mean CSAs of ulnar nerves.Interpretation: TTR-FAP patients had milder nerve enlargement with less variability in CSAs of median nerves than those with CIDP, suggesting that nerve ultrasound can be a potential useful auxiliary tool to help differentiate the two neuropathies.

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“…In patients with late-onset form, the progression is even faster and requires 2-4 years for switching from FAP-1 to FAP-2 and 2-3 years from FAP-2 to FAP-3 [27,28]. This is also important in differential diagnosis from chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) that represents the most common misdiagnosis [29][30][31][32]. This comes from the possibility to find in ATTRv patients nerve conduction slowing in range of demyelination [33].…”

Section: From Neuropathy To Diagnosismentioning

confidence: 99%

“…Therefore, ATTRv patients, usually in more advanced stage of disease, may be mistaken for CIDP, but a careful reading of electrophysiological findings reveals that slow nerve conduction velocity is associated with axonal loss and accordingly with a severe reduction of compound muscle action potential amplitudes [30][31][32]. Unresponsiveness to therapy (e.g.…”

Section: From Neuropathy To Diagnosismentioning

confidence: 99%

Hereditary transthyretin amyloidosis overview

et al. 2020

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Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into partially unfolded species that self-assemble into amyloid fibrils. Amyloid deposits and monomer-oligomer toxicity are the basis of multisystemic ATTRv clinical involvement. Peripheral nervous system (autonomic and somatic) and heart are the most affected sites. In the last decades, a better knowledge of pathomechanisms underlying the disease led to develop novel and promising drugs that are rapidly changing the natural history of ATTRv amyloidosis. Thus, clinicians face the challenge of timely diagnosis for addressing patients to appropriate treatment. As well, the progressive nature of ATTRv raises the issue of presymptomatic testing and risk management of carriers. The main aim of this review was to focus on what we know about ATTRv so far, from pathogenesis to clinical manifestations, diagnosis and hence patient’s monitoring and treatment, and from presymptomatic testing to management of carriers.

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Electrophysiological demyelinating features in hereditary ATTR amyloidosis

Cited by 14 publications

References 29 publications

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy

Hereditary transthyretin amyloidosis overview

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