Results 21 to 30 of about 9,576 (247)

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Transthyretin hereditary amyloidosis (ATTRv) clinical variability has been widely reported, not only across countries and variants but also among families and distinct regions within a single nation. One of the principal challenges in disease management is the accurate determination of age of onset (AOO), which is heterogeneous and ...
Maximiano-Alves G, Lavigne-Moreira C, Simões MV, Galvão AJP, Valicelli FH, Coneglian FS, Vegezzi E, Garibaldi PMM, Tomaselli PJ, Cortese A, Marques W.   +10 more
europepmc   +2 more sources

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. [PDF]

, 2013
To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this ...
Blake, J, Ernst, D, Hornemann, T, Houlden, H, Laurà, M, Liu, YT, Murphy, SM, Polke, J, Reilly, MM, Wei, Y, Winer, J   +10 more
core   +1 more source

Single-centre experience on transthyretin familial amyloid polyneuropathy : case series and literature review [PDF]

, 2018
Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue.
De Bleecker, Jan, De Pauw, Michel, Martens, Broes   +2 more
core   +2 more sources

Structural, mechanistic and regulatory studies of serine palmitoyltransferase [PDF]

, 2012
SLs (sphingolipids) are composed of fatty acids and a polar head group derived from l-serine. SLs are essential components of all eukaryotic and many prokaryotic membranes but S1P (sphingosine 1-phosphate) is also a potent signalling molecule.
Alexeev, An, Astner, Bejaoui, Bourquin, Breslow, Buede, Dietrich, Dominic J. Campopiano, Eliot, Fahy, Gable, Gable, Gable, Garofalo, Geiger, Han, Han, Han, Hanada, Hanada, Hanada, Hjelmqvist, Hojjati, Hornemann, Hornemann, Huang, Ikushiro, Ikushiro, Ikushiro, Jahan, James H. Naismith, Jonathan Lowther, Kawahara, Kelly, Lowther, Lowther, Merrill, Mun, Nagiec, Nagiec, Penno, Raman, Raman, Roelants, Rotthier, Schmidt, Shiraiwa, Snell, Teresa M. Dunn, Ternes, Weiss, Williams, Yard, Yim, Zhao, Zitomer   +56 more
core   +1 more source

Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages

Annals of Clinical and Translational Neurology, 2022
Objective To determine the sensitivity and specificity of cutaneous amyloid deposition in relation to patient‐reported measures in the earliest disease stage of hereditary ATTR amyloidosis (ATTRv).
Roy Freeman, Alejandra Gonzalez‐Duarte, Fabio Barroso, Marta Campagnolo, Sharika Rajan, Jennifer Garcia, Jee Young Kim, Ningshan Wang, Lucas Orellana, Christopher Gibbons   +9 more
doaj   +1 more source

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area [PDF]

, 2018
Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and
Andrés, N., Martí Massó, José Félix, Poza Aldea, Juan José   +2 more
core   +2 more sources

Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial [PDF]

, 2018
Background: Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive and fatal disease with a range of clinical manifestations.Objective: This study comprehensively evaluates disease characteristics in a large, diverse cohort of patients with ...
Ackermann, Elizabeth J., Barroso, Fabio A., Benson, Merrill D., Berk, John L., Coelho, Teresa, Dyck, P. James B., Dyck, Peter J., Gertz, Morie A., Heitner, Stephen B., Hughes, Steven G., Jung, Shiangtung W., Kwoh, T. Jesse, Monia, Brett P., Polydefkis, Michael, Tai, Li, Waddington-Cruz, Marcia, Wang, Annabel K.   +16 more
core   +3 more sources

Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation

Indian Journal of Dermatology, 2020
Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation ...
Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala   +3 more
doaj   +1 more source

Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4

Indian Journal of Paediatric Dermatology, 2022
Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male
Prateek Pathak, Mohammad Adil, Syed Suhail Amin, Fatima Tuz Zahra   +3 more
doaj   +1 more source

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources