Results 111 to 120 of about 29,371 (197)

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene

The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates ...
Ramesh V, Chinnery PF, Dalton A, Keers SM, Holden MJ   +4 more
core   +2 more sources

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis. [PDF]

BMC Neurol
Tafakhori A, Sarvestani Z, Kariminejad A, Tajsharghi H, Seo GH, Ryu SW, Heydari Havadaragh S.   +6 more
europepmc   +1 more source

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain. [PDF]

Eur J Neurol
Carretero-Vilarroig L, Sivera R, Baviera R, Espinós C, Muelas N, Vazquez-Costa JF, Aller E, Bataller L, Jaijo T.   +8 more
europepmc   +1 more source

Prevalence of sexual dysfunction in HTLV-1 patients without spastic paraparesis and the association with psychiatric symptoms. [PDF]

Indian J Psychiatry, 2023
Kamrani M, Rad NN, Zemorshidi F, Khadem-Rezaiyan M.   +3 more
europepmc   +1 more source

The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Res Ther
Zoltowska KM, Bandera J, Hamed MB, Enzlein T, Hopf C, Ryan NS, Chávez-Gutiérrez L.   +6 more
europepmc   +1 more source

Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement. [PDF]

Front Neurol, 2022
Lan MY, Lu CS, Wu SL, Chen YF, Sung YF, Tu MC, Chang YY.   +6 more
europepmc   +1 more source

Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP. [PDF]

Neurol Genet, 2021
Thams S, Paucar M, Wingård L, Thonberg H, Smith C, Nennesmo I, Svenningsson P.   +6 more
europepmc   +1 more source

Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review. [PDF]

J Clin Med
Smółka KA, Smółka L, Guz W, Chaber E, Perenc L.   +4 more
europepmc   +1 more source

Factors Involved in Pain Perception and Quality of Life in Patients with Tropical Spastic Paraparesis. [PDF]

Rev Soc Bras Med Trop, 2022
Criado-Martinez S, Rivera-Lozada O.
europepmc   +1 more source

Novel Mutation Causing Oculodentodigital Dysplasia: A Rare Cause of Spastic Paraparesis Not to Miss. [PDF]

Mov Disord Clin Pract
Pérez-Torre P, Aguilera Vega C, López-Sendon JL.   +2 more
europepmc   +1 more source