Results 41 to 50 of about 10,587 (266)

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

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease. [PDF]

J Peripher Nerv Syst
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bjelica B, Hendrich C, von Hardenberg S, Vukojevic M, Körner S, Gschwendtberger T, Haghikia A, Peric S, Petri S.   +8 more
europepmc   +2 more sources

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

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4. [PDF]

BMJ Case Rep
A toddler boy presented with irritability, vomiting, fever and multiple episodes of seizures, followed by status epilepticus on day 4 of illness. The child had a history of reduced pain perception, recurrent unexplained febrile episodes, self-injurious ...
Gowda VK, Varghese A, Kinhal UV, Srinivasan VM, Nayyer A.   +4 more
europepmc   +2 more sources

Corino de Andrade disease: mechanisms and impact on reproduction [PDF]

, 2017
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive ...
Barros, A., Coelho, T., Lopes, R., Sousa, M.   +3 more
core   +1 more source

Disease mechanisms in hereditary sensory and autonomic neuropathies

Neurobiology of Disease, 2006
Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected. In contrast, sensory abnormalities predominate or are exclusively present in hereditary sensory and autonomic ...
Verpoorten, Nathalie, De Jonghe, Peter, Timmerman, Vincent   +2 more
openaire   +4 more sources

V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I

Case Reports in Genetics, 2018
Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by distal sensory loss, pain insensitivity, and autonomic disturbances.
Kwo Wei David Ho, Nivedita U. Jerath
doaj   +1 more source

Case report of a 7-year-old CIPA child with multiple debridement's and amputations.

International Journal of Endorsing Health Science Research, 2021
Background: Congenital Insensitivity to Pain (CIPA), otherwise known as Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV), is a rarely occurring autosomal recessive disorder encompassed by a group of hereditary and sensory autonomic ...
Syed Ali Haider Zaidi, Sufyan Razak, Syeda Kiran Fatima, Hafiz Abdul Wase, Syed Mohammad Haider Zaidi, Zeeshan Yousuf, Farah Naz, Bilal Yousuf   +7 more
doaj   +1 more source

Charcot arthropathy and acro-osteolysis in a 5-year-old girl with hereditary sensory and autonomic neuropathy type II: A case report

Rheumatology Research, 2023
Charcot neuropathic arthropathy is a destructive process that can occur in patients with neuropathy associated with medical diseases such as diabetes.

semanticscholar   +1 more source