Same same, but different? The neurological presentation of wildtype transthyretin (ATTRwt) amyloidosis

References

• Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry. 2015;86(9):1036–1043.
   PubMed Web of Science ®Google Scholar
• Coelho T, Maurer MS, Suhr OB. THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin. 2013;29(1):63–76.
   PubMed Web of Science ®Google Scholar
• Narotsky DL, Castano A, Weinsaft JW, et al. Wild-type transthyretin cardiac amyloidosis: novel insights from advanced imaging. Can J Cardiol. 2016;32(9):1166.e1–1166.e10.
   Web of Science ®Google Scholar
• Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641–2654.
   PubMed Web of Science ®Google Scholar
• Živković S, Soman P, Lacomis D. Late-onset peripheral neuropathy in patients with wild type transthyretin amyloidosis (wtATTR). Amyloid. 2020;27(2):142–143.
   PubMed Web of Science ®Google Scholar
• Perugini E, Guidalotti PL, Salvi F, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005;46(6):1076–1084.
   PubMed Web of Science ®Google Scholar
• Suanprasert N, Berk JL, Benson MD, et al. Retrospective study of a TTR FAP cohort to modify NIS + 7 for therapeutic trials. J Neurol Sci. 2014;344(1-2):121–128.
   PubMed Web of Science ®Google Scholar
• Dyck PJ, Kincaid JC, Dyck PJB, et al. Assessing mNIS + 7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial . Muscle Nerve. 2017;56(5):901–911.
   PubMed Web of Science ®Google Scholar
• Adams D, Gonzalez-Duarte A, O'Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):11–21.
   PubMed Web of Science ®Google Scholar
• Benson MD, Waddington-Cruz M, Berk JL, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):22–31.
   PubMed Web of Science ®Google Scholar
• Benson MD, Dasgupta NR, Monia BP. Inotersen (transthyretin-specific antisense oligonucleotide) for treatment of transthyretin amyloidosis. Neurodegener Dis Manag. 2019;9(1):25–30.
   PubMed Web of Science ®Google Scholar
• Adams D, Suhr OB, Dyck PJ, et al. Trial design and rationale for APOLLO, a phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy. BMC Neurol. 2017;17(1):181.
   PubMed Web of Science ®Google Scholar
• Coutinho CA, Conceição I, Almeida A, et al. Early detection of sympathetic myocardial denervation in patients with familial amyloid polyneuropathy type I. Rev Port Cardiol. 2004;23(2):201–211.
   PubMedGoogle Scholar
• Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
   PubMed Web of Science ®Google Scholar
• Ando Y, Suhr OB. Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP). Amyloid. 1998;5(4):288–300.
   PubMed Web of Science ®Google Scholar
• Sletten DM, Suarez GA, Low PA, et al. COMPASS 31: a refined and abbreviated composite autonomic symptom score. Mayo Clin Proc. 2012;87(12):1196–1201.
   PubMed Web of Science ®Google Scholar
• González-Duarte A, Berk JL, Quan D, et al. Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis. J Neurol. 2020;267(3):703–712.
   PubMed Web of Science ®Google Scholar
• Treister R, O'Neil K, Downs HM, et al. Validation of the composite autonomic symptom scale 31 (COMPASS-31) in patients with and without small fiber polyneuropathy. Eur J Neurol. 2015;22(7):1124–1130.
   PubMed Web of Science ®Google Scholar
• Vinik EJ, Vinik AI, Paulson JF, et al. Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2014;19(2):104–114.
   PubMed Web of Science ®Google Scholar
• Gendre T, Planté-Bordeneuve V. Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy. Clin Auton Res. 2019;29(Suppl 1):25–31.
   PubMedGoogle Scholar
• de Gregorio C, Dattilo G, Casale M, et al. Left atrial morphology, size and function in patients with transthyretin cardiac amyloidosis and primary hypertrophic cardiomyopathy　- comparative strain imaging study. Circ J. 2016;80(8):1830–1837.
   PubMed Web of Science ®Google Scholar
• Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the american society of echocardiography and the european association of cardiovascular imaging. J Am Soc Echocardiogr. 2015;28(1):1–39.e14.
   PubMed Web of Science ®Google Scholar
• Dorbala S, Ando Y, Bokhari S, et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: Part 1 of 2-Evidence base and standardized methods of imaging. J Card Fail. 2019;25(11):e1–e39.
   PubMed Web of Science ®Google Scholar
• Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404–2412.
   PubMed Web of Science ®Google Scholar
• Brignole M, Moya A, de Lange FJ, ESC Scientific Document Group, et al. 2018 ESC guidelines for the diagnosis and management of syncope. Eur Heart J. 2018;39(21):1883–1948.
   PubMed Web of Science ®Google Scholar
• Bavry AA, Hess E, W Waldo S, et al. Long-term predictive value of stroke volume index obtained from right heart catheterization: Insights from the veterans affairs clinical assessment, reporting, and tracking program. Clin Cardiol. 2020;43(10):1126–1132.
   PubMed Web of Science ®Google Scholar
• Raviele A, Themistoclakis S, Gasparini G, editors. Methodology of Head-Up tilt test: What is the sensitivity and specificity of the different protocols?. Milano: Springer Milan; 1996.
   Google Scholar
• Bartoletti A, Alboni P, Ammirati F, et al. 'The Italian Protocol': a simplified head-up tilt testing potentiated with oral nitroglycerin to assess patients with unexplained syncope . Europace. 2000;2(4):339–342.
   PubMed Web of Science ®Google Scholar
• Freeman R, Wieling W, Axelrod FB, et al. Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome. Clin Auton Res. 2011;21(2):69–72.
   PubMed Web of Science ®Google Scholar
• Vinik EJ, Hayes RP, Oglesby A, et al. The development and validation of the norfolk QOL-DN, a new measure of patients' perception of the effects of diabetes and diabetic neuropathy. Diabetes Technol Ther. 2005;7(3):497–508.
   PubMedGoogle Scholar
• Escorihuela RM, Capdevila L, Castro JR, et al. Reduced heart rate variability predicts fatigue severity in individuals with chronic fatigue syndrome/myalgic encephalomyelitis. J Translat Med. 2020;18(1):4.
   PubMed Web of Science ®Google Scholar
• Singh R, Arbaz M, Rai NK, et al. Diagnostic accuracy of composite autonomic symptom scale 31 (COMPASS-31) in early detection of autonomic dysfunction in type 2 diabetes mellitus. Diabetes Metab Syndr Obes. 2019;12:1735–1742.
   PubMed Web of Science ®Google Scholar
• Pieske B, Tschöpe C, de Boer RA, et al. How to diagnose heart failure with preserved ejection fraction: the HFA-PEFF diagnostic algorithm: a consensus recommendation from the heart failure association (HFA) of the european society of cardiology (ESC). Eur Heart J. 2019;40(40):3297–3317.
   PubMed Web of Science ®Google Scholar
• Baumgartner H, Hung J, Bermejo J, European Association of Echocardiography, et al. Echocardiographic assessment of valve stenosis: EAE/ASE recommendations for clinical practice. J Am Soc Echocardiogr. 2009;22(1):1–23. quiz 101–2.
   PubMed Web of Science ®Google Scholar
• González-López E, Gagliardi C, Dominguez F, et al. Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths. Eur Heart J. 2017;38(24):1895–1904.
   PubMed Web of Science ®Google Scholar
• Sommer C, Geber C, Young P, et al. Polyneuropathies. Dtsch Arztebl Int. 2018;115(6):83–90.
   PubMed Web of Science ®Google Scholar
• Phull P, Sanchorawala V, Connors LH, et al. Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). Amyloid. 2018;25(1):62–67.
   PubMed Web of Science ®Google Scholar
• Kyle RA, Therneau TM, Rajkumar SV, et al. Prevalence of monoclonal gammopathy of undetermined significance. N Engl J Med. 2006;354(13):1362–1369.
   PubMed Web of Science ®Google Scholar
• Chaudhry HM, Mauermann ML, Rajkumar SV. Monoclonal gammopathy-associated peripheral neuropathy: diagnosis and management. Mayo Clin Proc. 2017;92(5):838–850.
   PubMed Web of Science ®Google Scholar
• Monteiro C, Mesgazardeh JS, Anselmo J, et al. Predictive model of response to tafamidis in hereditary ATTR polyneuropathy. JCI Insight. 2019;4(12):e126526.
   PubMed Web of Science ®Google Scholar
• Pinto MV, Milone M, Mauermann ML, et al. Transthyretin amyloidosis: Putting myopathy on the map. Muscle Nerve. 2020;61(1):95–100.
   PubMed Web of Science ®Google Scholar
• Hahn K, Urban P, Meliß RR, et al. [Carpal tunnel syndrome and ATTR-amyloidosis]. Handchir Mikrochir Plast Chir. 2018;50(5):329–334.
   PubMed Web of Science ®Google Scholar
• Milandri A, Farioli A, Gagliardi C, et al. Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies. Eur J Heart Fail. 2020;22(3):507–515.
   PubMed Web of Science ®Google Scholar
• Hutt DF, Fontana M, Burniston M, et al. Prognostic utility of the perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid. Eur Heart J Cardiovasc Imaging. 2017;18(12):1344–1350.
   PubMed Web of Science ®Google Scholar
• Lam L, Margeta M, Layzer R. Amyloid polyneuropathy caused by wild-type transthyretin. Muscle Nerve. 2015;52(1):146–149.
   PubMed Web of Science ®Google Scholar
• Galant NJ, Westermark P, Higaki JN, et al. Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy. Clin Sci (Lond). 2017;131(5):395–409.
   PubMed Web of Science ®Google Scholar
• Wajnsztajn Yungher F, Kim A, Boehme A, et al. Peripheral neuropathy symptoms in wild type transthyretin amyloidosis. J Peripher Nerv Syst. 2020;25(3):265–272.
   PubMed Web of Science ®Google Scholar
• Russell A, Hahn C, Chhibber S, et al. Utility of neuropathy screening for wild-type transthyretin amyloidosis patients. Can J Neurol Sci. 2020;21:1–9.
   Google Scholar
• Goyal A, Lahan S, Dalia T, et al. Clinical comparison of V122I genotypic variant of transthyretin amyloid cardiomyopathy with wild-type and other hereditary variants: a systematic review. Heart Fail Rev. 2021.doi:https://doi.org/10.1007/s10741-021-10098-6.
   Google Scholar
• Kleefeld F, Knebel F, Eurich D, et al. Familial oculo-leptomeningeal transthyretin amyloidosis caused by Leu55Arg mutation. J Neuromuscul Dis. 2020;7(4):515–519.
   PubMedGoogle Scholar
• Dohrn MF, Auer-Grumbach M, Baron R, et al. Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the german/Austrian position and review of the literature. J Neurol. 2021;268(10):3610–3625.
   PubMed Web of Science ®Google Scholar
• Hanewinckel R, Drenthen J, van Oijen M, et al. Prevalence of polyneuropathy in the general Middle-aged and elderly population. Neurology. 2016;87(18):1892–1898.
   PubMed Web of Science ®Google Scholar
• Mold JW, Vesely SK, Keyl BA, et al. The prevalence, predictors, and consequences of peripheral sensory neuropathy in older patients. J Am Board Fam Pract. 2004;17(5):309–318.
   PubMedGoogle Scholar
• Shields RW. Jr. Heart rate variability with deep breathing as a clinical test of cardiovagal function. Cleve Clin J Med. 2009;76(Suppl 2):S37–S40.
   PubMedGoogle Scholar