Results 61 to 70 of about 10,460 (201)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Tau Accumulation in Primary Motor Cortex of Variant Alzheimer's Disease with Spastic Paraparesis

, 2017
We studied topographic distribution of tau and amyloid-β in a patient with variant Alzheimer's disease with spastic paraparesis (VarAD) by comparing AD patients.
최재용, 유영훈, 조한나, 이명식, 류철형   +4 more
core   +1 more source

Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report

Annals of Clinical and Translational Neurology
HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who ...
Jiahui Zeng, Wotu Tian, Jingran Yang, Yanping Yang, Li Cao, Xinghua Luan   +5 more
doaj   +1 more source

Intrathecal Baclofen in Hereditary Spastic Paraparesis

Frontiers in Neurology, 2019
Introduction: Treatment with intrathecal baclofen (ITB) is a therapeutic option in the management of severe spasticity in patients with hereditary spastic paraparesis (HSP).
Elke Pucks-Faes, Judith Dobesberger, Gabriel Hitzenberger, Heinrich Matzak, Andreas Mayr, Elena Fava, Eleonora Genelin, Leopold Saltuari, Leopold Saltuari   +8 more
doaj   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.
ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
wiley   +1 more source

M233V PSEN1 mutation presenting as very early-onset dementia and spastic paraparesis

, 2014
M233V PSEN1 mutation found in a young female with AD and spastic ...
CERONI, MAURO, COSTA, ALFREDO, Bianchi, M., Vitali, P., Sinforiani, E, Vitali, P, RICCA, IVANA, Cereda, C, Bianchi, M, Cereda, C., Ricca, I, Gagliardi, S, Bini, P., Bini, P, Gagliardi, S.   +14 more
core  

Human T-lymphotropic virus type 1 (HTLV-1) infection and spastic paraparesis. Advances and diagnosis 35 years after its discovery

Iatreia, 2017
Human T-lymphotropic virus type 1 (HTLV-1) causes disorders such as chronic inflammatory progressive myelopathy, which is known as HTLV-1associated myelopathy (MAH), characterized by spastic paraparesis symptoms.
Rivera-Caldón, Cristhian Camilo, López-Valencia, David, Zamora-Bastidas, Tomás Omar, Dueñas-Cuéllar, Rosa Amalia, Mora-Obando, Diana Lorena   +4 more
doaj   +1 more source

Brain atrophy in pure and complicated hereditary spastic paraparesis: a quantitative 3D MRI study

, 2006
Hereditary spastic paraparesis (HSP) is a heterogeneous group of neurodegenerative disorders with progressive lower limb spasticity, categorized into pure (p-HSP) and complicated forms (c-HSP).
Kassubek, J, Juengling, F D, Baumgartner, A, Riecker, A, Huppertz, H-J, Sperfeld, A-D   +5 more
core   +1 more source

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre, Thomas Ollivier, Guillaume Baille, Luc Defebvre, Vincent Huin, Eugenie Mutez   +5 more
wiley   +1 more source