Objective: To describe 58 subjects with rare TTR mutations, and to compare the different biomarkers between carriers patients.Methods: gene sequence test was performed in 15 suspicious their direct family. All positive undertook prospective evaluations a period of 49 months.Results: Of 95 genetic tests performed, (61%) were for Ser50Arg mutation 38 (65%), Ser52Pro (26%) Gly47Ala 5 (9%). Initial symptoms neuropathic 19 (73%), gastrointestinal 6 (23%) autonomic 1 (4%).Conclusions: The natural...

Abstract Background ATTR (ATTRv) amyloidosis neuropathy is characterized by progressive sensorimotor and autonomic nerve degeneration secondary to amyloid deposition caused a misfolded transthyretin protein (TTR). Small fiber an early clinical manifestation of this disease resulting from the dysfunction Aδ C small fibers. Tafamidis, selective TTR stabilizer, has proven its efficacy in earlier stages hATTR. Objectives To evaluate course utility cutaneous pathological biomarkers patients with...

Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease characterized by extracellular deposits of amyloid due to the autosomal dominant inheritance mutation in TTR gene (18q12.1). Although described worldwide, it rare disease, limited certain parts world. The aim this manuscript describe presence and characteristics ATTR Mexico. From 2010 through database Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán we selected cases that had diagnosis "amyloidosis",...

We report the results of a pilot, enrichment-design, placebo-controlled crossover trial pregabalin for treatment prediabetic small-fiber neuropathic pain.Individuals with impaired fasting glucose or tolerance and pain were evaluated according to UTAH Early Neuropathy Scale (UENS), Quantitative Sensory Testing, intraepidermal nerve fiber density (IENFD). Symptoms graded Numeric Rating (NRS). Individuals who responded administration placebo not eligible. Pregabalin was initiated at dose 75 mg...

Background: The phenotypic heterogeneity of transthyretin amyloidosis (ATTR) familial polyneuropathy may be linked to the type mutation and environmental factors. A gender difference in relation severity disease has been suspected. More than 100 different pathogenic variants hereditary (TTR) mutations have reported. Objective: To describe 32 patients with confirmed TTR Ser50Arg from same geographical origin. Methods: Seven families up four affected generations underwent genetic testing...

"Small fibre neuropathy assessments in early stages of hATTR amyloidosis." Amyloid, 26(sup1), pp. 55–56

Hereditary transthyretin amyloidosis (hATTR) is a rare disease that affects multiple systems and triggered by mutation in the (TTR) gene. This report introduces new pathogenic variant, Phe84Tyr, identified patient with no known family history of amyloidosis. The exhibited polyneuropathy, cardiomyopathy, significant ocular involvement, potentially unique characteristic this variant.

April 23, 2018April 10, 2018Free AccessAutonomic description in patients with very early TTR amyloidosis (Familial Amyloid Polyneuropathy). (P2.115)Maria Alejandra Gonzalez Duarte, Carlo Enrico Bañuelos, Karen García, Omar Fueyo, Carolina Dominguez, and Karla Cardenas-SotoAuthors Info & AffiliationsApril 2018 issue90 (15_supplement)https://doi.org/10.1212/WNL.90.15_supplement.P2.115 Letters to the Editor

Objectives: To study the efficacy of pregabalin in painful prediabetic neuropathy. Background: Pain is seen between 4.2% and 8.7% patients with prediabetes. Its treatment usually extrapolated from DM trials. Methods: Patients prediabetes neuropathic pain without other possible causes for neuropathy were evaluated open-label run a doble-blind placebo controlled crossover trial. Evaluations included Utah Early Neuropathy Scale, QST intraepidermal nerve fiber density (IENFD) 27(60%) cases....

Objective: To compare pain profiles in patients with painful small fiber neuropathy of different etiologies. Background: Different somatosensory submodalities such as mechanoception, proprioception, thermoception or nociception may be affected etiologies before conveying common pathways. Methods: A symptom inventory questionnaire, neurologic examination and QST were performed early onset neuropathic prediabetes (44), hereditary amyloidosis (32), primary Sjögren syndrome (20). Patients muscle...

Objective: To demonstrate the efficacy of pregabalin in treatment neuropathic pain associated with prediabetic state Background: Prediabetes is highly prevalent; age adjusted US prevalence 34.1[percnt]. A small fiber neuropathy a frequent accompaniment disorder. There no approved drug for pain. Design/Methods: Patients prediabetes and were studied an enriched design, double-blind, randomized cross-over trial. Pain was graded using modified Likert (0-10) numeric rating scale (NRS). Pregabalin...

Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease result of an autosomal dominant mutation in the transthyretin (TTR) gene.This will cause deposition misfolded TTR protein several organs, leading to its dysfunction.The has been described worldwide, although it still considered rare.It region-dependent genotype-phenotype correlation.Cardiomyopathy and symmetric length-dependent sensory-motor autonomic polyneuropathy are hallmark manifestations.However, non-endemic...

OBJECTIVE: To correlate neuropathic symptoms with different serum screening levels of glucose.

Objective: We aim to describe the main characteristics of patients with 3 different TTR mutations. Background Familial amyloid polyneuropathy is a late-onset inherited amyloidosis associated mutation on transthyretin (TTR) gene. Marked diversity exists in clinical characteristics. Design/Methods: 33 from 10 families proven (27 S50A, 4 S52P, and 2 G47A) underwent prospective neurologic autonomic examination. All evaluations were performed period 12 months. Results: 19 male 14 women included....

"Quality of life assessment after 6 months initiating treatment with tafamidis in patients non-Val30Met mutations." Amyloid, 26(sup1), pp. 57–58

May 7, 2019April 9, 2019Free AccessAutonomic manifestations after initiating TTR stabilizer in ATTR amyloidosis. (P3.6-054)Alejandra Gonzalez-Duarte, Karla Cardenas-Soto, Claudia Mendoza-Tejeda, García-García, Maria del Carmen Rivera-Garcia, and Brenda Yazmin Rubio-NavarroAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.P3.6-054 Letters to the Editor

May 7, 2019April 9, 2019Free AccessAutonomic manifestations before and after renal denervation. (P3.6-064)Alejandra Gonzalez-Duarte, Brenda Poled JImenez-Lopez, Moises Alejandro Soto-Limon, Karla Cardenas-Soto, Claudia Mendoza-Tejeda, Patricia Marin, RicaldeAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.P3.6-064 Letters to the Editor

Thursday, April 30April 14, 2020Free AccessPeripheral Neuropathy outcome after 2-years of treatment with tafamidis in patients only small fiber symptoms and non-Val30Met hATTR amyloidosis. (1833)Maria Alejandra Gonzalez Duarte, Xel-Ha Domínguez-Vega, Giovanni Cortés-León, Sandra Pérez-Castañeda, Karla Cardenas-SotoAuthors Info & AffiliationsApril 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.1833 Letters to the Editor