Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G&gt;T in the transthyretin gene

Yuan, Zhenhua; Guo, Lijia; Liu, Xixi; Xiao, Xuewen; Jiao, Bin; Wang, Junling; Yan, Xinxiang; Tang, Beisha; Shen, Lu

doi:10.1016/j.jocn.2018.10.040

Cited by 11 publications

(17 citation statements)

References 14 publications

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“…Interestingly, chronic cough was observed in 7 patients with TTR Val30Met, Ala97Ser, Phe33Val, Glu42Gly mutation. Nevertheless, the cause of chronic dry cough remains unknown, but could be attributed to deposition of amyloid in the vagal nerve or denervation hypersensitivity of the upper airways 19 . Three patients had lower cranial nerve involvement, including dysarthria or tongue fasciculation with Ala97Ser mutation, to our knowledge, which was not mentioned in previous studies with Ala97Ser mutation 9,10 …”

Section: Discussionmentioning

confidence: 58%

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: Discussionmentioning

confidence: 58%

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Wang

et al. 2021

Ann Clin Transl Neurol

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“…The patients were from four pedigrees carrying two different mutations. Two families (13 patients) with c.349G >T (p.Ala117Ser), a variant that mainly originated from Taiwan [27–30] and mainland China [31], were distinguished by a late‐onset age and moderate or slow progression [32]. The remaining patients had a c.148G >A (p.Val50Met) mutation.…”

Section: Resultsmentioning

confidence: 99%

Corneal sub‐basal whorl‐like nerve plexus: a landmark for early and follow‐up evaluation in transthyretin familial amyloid polyneuropathy

Zhang¹,

Liu

Wang

et al. 2020

Euro J of Neurology

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Background and purposeSmall‐fiber nerves are the first to be involved in transthyretin familial amyloid polyneuropathy (TTR‐FAP) patients. In vivo corneal confocal microscopy (CCM) is a noninvasive technique to detect small‐fiber polyneuropathy (SFN) by quantifying corneal nerve morphology. The characteristic whorl‐like pattern of the corneal nerve provides a static landmark for observation. We aimed to evaluate whether CCM images of the whorl‐like plexus can sensitively evaluate and monitor disease progression in FAP patients.MethodsFifteen FAP patients and 15 controls underwent neurological evaluation and CCM observation. Corneal nerve fiber length (CNFL), corneal nerve fiber density (CNFD), corneal nerve branch density (CNBD) detected by conventional method and inferior whorl length (IWL), inferior whorl fiber density (IWFD), and inferior whorl branch density (IWBD) were compared in controls and patients. The Langerhans cell (LC) density in each image was calculated.ResultsAll CCM parameters were significantly reduced with disease progression. Preclinical patients had significantly lower IWL (P = 0.008) than age‐matched controls. IWL (P = 0.006), CNFL (P = 0.005), CNBD (P = 0.008), and CNFD (P = 0.014) were significantly lower in early‐phase patients. LC density was significantly increased around the central whorl in early‐phase patients and was relatively lower in progressive patients. Both IWL and CNFL correlated with the severity of neuropathy, and IWL was more significantly reduced. The area under the receiver operating characteristic (ROC) curve for FAP with CNFL and IWL was 88.0% (95% CI, 70.9%–96.9%) and 89.3% (95% CI, 72.6%–97.6%), respectively, exceeding other parameters.ConclusionsIWL is a more sensitive surrogate to detect preclinical SFN in FAP and can best discriminate patients from controls. The clustering of immature LCs at the inferior whorl area might reflect the inflammatory response of small‐fiber nerves at the early stage.

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“…ATTRA97S-PN has usually been found to manifest with late-onset (> 50 years) polyneuropathy [ 4 , 6 , 7 ]. However, two reported patients from mainland China had early-onset (38 and 23 years) disease [ 18 , 19 ]. Both carried a heterozygous variant.…”

Section: Discussionmentioning

confidence: 99%

“…Both carried a heterozygous variant. One patient had slowly progressive autonomic neuropathy for two decades before developing muscular weakness at 58 years [ 19 ]. Another patient had had autonomic neuropathy at 23 and developed sensory and motor polyneuropathy two years later [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

et al. 2021

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Background Ala97Ser transthyretin amyloidosis-associated polyneuropathy (ATTRA97S-PN) is a rare form of inherited polyneuropathy, usually manifesting with late-onset (> 50) progressive polyneuropathy. This mutation is mostly prevalent in Taiwanese and Han-Chinese individuals. The aim of this study was to describe the clinical and comprehensive neurophysiological profiles of ATTRA97S-PN in Thai patients. Methods The clinical profiles and serial neurophysiologic studies (nerve conduction study (NCS), quantitative sensory test (QST), and comprehensive autonomic function test (AFT)) of symptomatic ATTRA97S-PN patients who had been followed-up at King Chulalongkorn Memorial Hospital during 2010–2020 were retrospectively reviewed. Results Nine symptomatic patients (55.6 % were male) from four unrelated families were included. All were Thais of mixed Thai Chinese descent. The mean age of onset was 48.3 (32–60) years. The mean age at diagnosis was 54.8 (33–66) years. Three patients developed early-onset (< 40y) polyneuropathy. The mean Neuropathy Impairment Score was 41.33 (10–92) at diagnosis. Sensory (9/9) and autonomic (9/9) neuropathies were more frequent than motor neuropathy (5/9), which appeared in the late stage of disease. Hypoesthesia in the feet, and gastrointestinal autonomic symptoms were frequently reported as the initial symptoms. The course of neuropathy progressed over years to decades. The worsening of neuropathy tended to progress faster once motor nerves were affected in both clinical and neurophysiological aspects. Concurrent cardiac amyloidosis was found in 6/9 patients. NCS showed length-dependent sensorimotor axonal polyneuropathy in 5/9 patients, and median neuropathy at the wrist (mostly bilateral) in 7/9 patients. QST showed abnormalities in the vibratory detection threshold, the cold detection threshold and the heat pain sensation in 8/9, 8/9 and 7/7 tested patients, respectively. AFT results were abnormal in all. The mean composite autonomic severity score was 5 (3–9). Conclusions This clinical study is the first of ATTRA97S-PN in Thai patients. The mixed polyneuropathy-cardiopathy phenotype was the most common manifestation. In this cohort, the age of onset was lower, and the course of neuropathy was relatively longer, than that in previous studies. Some patients may develop early-onset polyneuropathy. This mutation has not yet been documented in any population other than Han Chinese-related populations, probably suggesting a founder effect. Further studies are warranted.

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Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene

Cited by 11 publications

References 14 publications

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Corneal sub‐basal whorl‐like nerve plexus: a landmark for early and follow‐up evaluation in transthyretin familial amyloid polyneuropathy

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

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