Role of Sport Activity on Quality of Life in Charcot-Marie-Tooth 1A Patients.

The present study aims to investigate the benefits induced by physical activity/practiced sport in Charcot-Marie-Tooth 1A (CMT1A). Patients were divided into sport and no-sport groups according to their sports performance habit. Thirty-one patients were enrolled, of which 14 practiced sports and 17 did not.

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.

Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal Muscular Atrophy Health Index (SMAHI), a disease-specific, patient reported outcome measure questionnaire, designed to estimate the patients' perception of disease burden. Test-retest reliability was assessed in 37 patients (16 children aged 12-17 and 21 adults) and was excellent in both cohorts.

ATTRv amyloidosis Italian Registry: clinical and epidemiological data.

Introduction: ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to characterise the epidemiology and genotype-phenotype correlation of ATTRv amyloidosis in Italy and to allow a better planning of diagnostic and therapeutic services.

Methods: Fifteen Italian referral centres for amyloidosis spread all over the country have contributed to the Registry.

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies.

Recent advances in pathophysiological and genetic mechanisms of some neuromuscular diseases and a rapid progress in new pharmacological technologies led to an accelerated development of innovative treatments, generating an unexpected therapeutic revolution. In part 1, we report already commercially available drugs, just approved drugs and new therapeutic promises in the treatment of peripheral neuropathies. Hereditary transthyretin amyloidosis (hATTR) is a devastating disease due to amyloid accumulation in peripheral nerves, heart and autonomic system.

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR).

Hereditary transthyretin amyloidosis (hATTR) is a life-threatening multisystemic disease with sensory-motor peripheral neuropathy, cardiomyopathy and dysautonomia. Although the six-minute walk test (6MWT) is one of the most popular clinical tests to assess functional exercise capacity in cardiopulmonary and neuromuscular diseases, little is known about 6MWT in evaluating hATTR patients. A prospective single-center pilot study was performed in twenty hATTR patients, comparing 6MWT with widely used outcome measures.

Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.

Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis.

Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy.

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to cardiac failure or wasting syndrome. Previous studies showed that modified body mass index was related to time before death, duration of gastrointestinal disturbances, malabsorption and functional capacity. We report two patients in whom nutritional status worsened despite diet modification, hypercaloric supplement and two relevant therapeutic approaches such as liver transplant and tafamidis meglumine, respectively.

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area.

Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. However, less is known about its efficacy in later disease stages and in non-Val30Met mutations.

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.

Background: Hereditary transthyretin amyloidosis (ATTR) is usually characterised by a progressive peripheral and autonomic neuropathy often with associated cardiac failure and is due to dominantly inherited transthyretin mutations causing accelerated amyloid deposition. The UK population is unique in that the majority of patients have the T60A missense mutation in ATTR where tyrosine is replaced by adenine at position 60. This has been traced to a single founder mutation from north-west Ireland.

Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area.

Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide.

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.

Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot-Marie-Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation.

Autonomic involvement in subacute and chronic immune-mediated neuropathies.

Autonomic function can be impaired in many disorders in which sympathetic, parasympathetic, and enteric arms of the autonomic nervous system are affected. Signs and symptoms of autonomic involvement are related to impairment of cardiovascular, gastrointestinal, urogenital, thermoregulatory, sudomotor, and pupillomotor autonomic functions. Availability of noninvasive, sensitive, and reproducible tests can help to recognize these disorders and to better understand specific mechanisms of some, potentially treatable, immune-mediated autonomic neuropathies.

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

In this study, we report a novel connexin 32 (CX32) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement. We present clinical, electrophysiological, and neuroimaging data on a family with X-linked Charcot-Marie-Tooth disease caused by a 41A>G mutation of the gap junction protein beta 1 (GJB1) gene. The proband and her sister presented with a severe neuropathy with subclinical cognitive impairment; the proband's brother showed severe cognitive impairment and a mild neuropathy.

Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset.

Transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP) usually presents itself as a progressive sensorimotor polyneuropathy with severe autonomic dysfunction and cardiomyopathy. Eighteen patients carrying the Leu64 mutation underwent a series of regular follow-ups, including: neurological examination, electroneurography, electromyography, electrocardiography and echocardiography, blood analysis, a questionnaire on autonomic symptoms, cardiovascular autonomic tests and a 99mTc-DPD examination study. A late onset of a slowly progressive disease which reached its terminal stage after about 10  years was observed.

Endocardial and epicardial deformations in cardiac amyloidosis and hypertrophic cardiomyopathy.

Background: The aim of the present study was to analyze epicardial (EPI) and endocardial (ENDO) strain (S) in patients with transthyretin-related cardiac amyloidosis (TTR-CA) and hypertrophic cardiomyopathy (HCM) using echocardiography (TTE) with 2-dimensional feature tracking imaging (FTI).

Methods And Results: Thirty-three subjects (11 with HCM, 11 with TTR-CA, and 11 healthy subjects as controls) with a New York Heart Association functional class ≤ II underwent conventional TTE and FTI. TTE was used for the evaluation of left ventricle (LV) wall thickness, mass, systolic and diastolic function.