Results 51 to 60 of about 2,353 (157)

Concurrent Sporadic Late‐Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy

European Journal of Neurology, Volume 33, Issue 3, March 2026.
ABSTRACT Background Monoclonal gammopathy‐associated myopathies (MGAMs) include light chain (AL) amyloid myopathy, sporadic late‐onset nemaline myopathy (SLONM), and vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). These subtypes usually occur separately, although rare overlap has been described. We report a patient with monoclonal
Felipe J. S. Jones, Ikreet Cheema, Ruple S. Laughlin, Eli Muchtar, Teerin Liewluck   +4 more
wiley   +1 more source

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims In individuals with hereditary transthyretin amyloidosis (ATTRv) polyneuropathy, monitoring of disease progression and treatment response is crucial. The objective is to determine if serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) are reliable biomarkers of ATTRv polyneuropathy ...
Valentin Loser, Pascal Benkert, Alex Vicino, Nicolas Ghika, Pansy Lim Dubois Ferrière, Chantal Daigneault, Thierry Kuntzer, Aleksandra Maleska Maceski, Jens Kuhle, Marie Théaudin   +9 more
wiley   +1 more source

Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a patient with familial amyloid neuropathy

Clinical Neurophysiology Practice, 2018
Small fiber polyneuropathy (SFP) is a common heralding clinical manifestation of damage to the nervous system in patients with familial amyloidosis. The diagnosis of SFP is a significant factor in the decision to treat a previously asymptomatic gene carrier, as treatment would prevent irreversible nerve damage.
Mar Guasp, Alejandro A. Köhler, Michela Campolo, Jordi Casanova-Molla, Josep Valls-Sole   +4 more
openaire   +3 more sources

Cryptogenic Neuropathy - a retrospective analysis - Transthyretin-related familial amyloid polyneuropathy - differential diagnostic pathway [PDF]

Neurologie pro praxi, 2020
Jana Junkerová, Eva Kovalová
openaire   +1 more source

Familial Amyloid Neuropathy [PDF]

, 2020
openaire   +1 more source

Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis: United Kingdom Experience. [PDF]

Neurol Genet
Zhang VJW, O'Donnell LF, Skorupinska M, Carganillo R, Rossor AM, Fontana M, Rowczenio D, Gilbertson J, Gillmore JD, Reilly MM.   +9 more
europepmc   +1 more source

A structured list of laboratory tests for screening the possible causes of small fiber neuropathy in clinical practice. [PDF]

Front Neurol
Lefaucheur JP, Gendre T, Sène D.
europepmc   +1 more source

A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia. [PDF]

Brain Sci
Bamaga AK, Alyazidi AS, Alali FK.
europepmc   +1 more source

Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutation. [PDF]

Orphanet J Rare Dis
Qian N, Wei T, Qian Y, Yang W, Han H, Chen H, Li J.   +6 more
europepmc   +1 more source

Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review. [PDF]

Front Genet
Yuan X, Lv Y, Wang X, Han B, Xie B.
europepmc   +1 more source