Results 71 to 80 of about 10,460 (201)

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Brain and spinal cord magnetic resonance imaging in spastic paraparesis associated to human T-lymphotropic virus [PDF]

, 2006
Background: The spastic paraparesis associated to HTLV-1 causes degenerative pyramidal tract lesions of the spinal cord and affects cortical-nuclear connections in the brain.
García F., Luis, Cartier Rovirosa, Luis, Cervilla O., Jorge   +2 more
core  

Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. [PDF]

, 2015
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid metabolism causing a range of progressive neurological symptoms. Even in the presence of the classical triad of neurological dysfunction, tendon xanthoma and early onset ...
Shaw, P.J., Martindale, J.A., Hobson, E., Nicholls, Z.   +3 more
core   +1 more source

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

, 2014
International audienceBackground Hereditary spastic paraparesis (HSP) (syn. Hereditary spastic paraplegia, SPG) are a group of genetic disorders characterised by spasticity of the lower limbs due to pyramidal tract dysfunction.
Dor, Talya, Bouhouche, Ahmed, Brice, Alexis, Cinnamon, Yuval, Schuelke, Markus, Benomar, Ali, Bouslam, Naima, Meyer, Vincent, Durr, Alexandra, Stevanin, Giovanni, Raymond, Laure, Shaag, Avraham, Gaussen, Marion, Edvardson, Simon   +13 more
core   +1 more source

An efficient multidisciplinary approach in a pregnant patient with hereditary spastic paraparesis treated by intrathecal baclofen therapy: A case report

, 2021
Literature regarding cases of pregnant patients with hereditary spastic paraparesis (Strumpell-Lorrain disease) and those treated by intrathecal baclofen therapy is sparse.
Gustin, Thierry, Dereine, T, Deltombe, Thierry, Roland, V, Fostier, Michèle   +4 more
core  

Fluorosis Masquerading as Compressive Myelopathy

National Board of Examinations Journal of Medical Sciences
A 60-year-old woman from Cuddalore presented with restricted neck movements, progressive difficulty in walking, and lower limb weakness, leading to bed confinement.
Jayaram Saibaba, Gopinath Karuppiah
doaj   +1 more source

Caracterização molecular do HTLV-1 em pacientes com paraparesia espástica tropical/mielopatia associada ao HTLV-1 em Belém, Pará Molecular characterization of HTLV-1 among patients with tropical spastic paraparesis/HTLV-1 associated myelopathy in Belém, Pará

Revista da Sociedade Brasileira de Medicina Tropical, 2006
O presente estudo avaliou a ocorrência da infecção pelo HTLV-1 e seus subtipos em amostras de sangue de pacientes com diagnóstico clínico de paraparesia espástica tropical/mielopatia associada ao Htlv-1.
Lucinda A. Souza, Ivina G.L. Lopes, Eduardo Leitão Maia, Vânia N. Azevedo, Luiz Fernando A. Machado, Marluísa O.G. Ishak, Ricardo Ishak, Antonio Carlos R. Vallinoto   +7 more
doaj   +1 more source

Using the International Classification of Functioning, Disability and Health as a tool for analysis of the effect of physical therapy on spasticity in HAM/TSP patients

Revista da Sociedade Brasileira de Medicina Tropical, 2015
INTRODUCTION: This study aimed to evaluate spasticity in human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients before and after physical therapy using the International Classification of Functioning ...
Luana Rego Rodrigues, Luzielma Macedo Glória, Mayara do Socorro Brito dos Santos, Rita Medeiros, George Alberto da Silva Dias, Denise da Silva Pinto   +5 more
doaj   +1 more source

HTLV-I negative tropical spastic paraparesis: a scientific challenge Paraparesia espástica tropical HTLV-I negativa: um desafio científico

Arquivos de Neuro-Psiquiatria, 2001
We reviewed the historical, clinical and etiological aspects of the progressive chronic spastic myelopathies of unknown etiology, disserting on the clinical similarities between HTLV-I seropositive and seronegative tropical spastic paraparesis (TSP), as ...
Carlos Mauricio De Castro-Costa, Herwig Carton, Terezinha J. T. Santos   +2 more
doaj   +1 more source

Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review [PDF]

, 2017
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43.
Ho-Sung Ryu, Juyeon Kim, Kye Won Park, Sun Ju Chung   +3 more
core   +1 more source