Results 111 to 120 of about 132,494 (221)

Cervical Atrophy Following Complete Thoracic Spinal Cord Injury: Insights From a Multinational Cohort

European Journal of Neurology, Volume 33, Issue 9, September 2026.
Thoracic spinal cord injury is associated with significant remote degeneration of the uninjured cervical cord, even in the absence of direct cervical damage. Compared to able‐bodied controls, individuals with chronic thoracic injury showed reduced cervical cross‐sectional area and antero‐posterior/right–left diameters, along with increased eccentricity
Yann Quidé, Negin Hesam‐Shariati, Zina Trost, Thiago Folly de Campos, William R. Willoughby, Mark Bolding, Rachel E. Cowan, Pauline Zahara, Sylvia M. Gustin   +8 more
wiley   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, Volume 293, Issue 18, Page 5600-5626, September 2026.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

VRK1‐Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Introduction Hereditary motor neuropathies (HMN) represent a heterogeneous group of disorders with wide clinical and genetic variability. Despite advances in molecular diagnostics, approximately 50% of cases remain genetically unresolved, particularly those where distinguishing length‐dependent motor neuropathy from motor neuron disorder with ...
Manoella Guerra de Albuquerque Bueno, Diogo Fernandes dos Santos, Alexander M. Rossor, Matilde Laura, Alejandro Horga, Rodrigo Siqueira Soares Frezatti, Eduardo Vaz de Sousa Ferreira, Julian C. Blake, Jasper M. Morrow, Mary M. Reilly, Wilson Marques Júnior, Pedro José Tomaselli   +11 more
wiley   +1 more source

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

, 2006
Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member of the AAA protein family. A cohort of 34 unrelated Italian patients with pure spastic paraplegia, of which 18 displayed autosomal dominant inheritance and
GABRIELE AL, GAMBARDELLA A, MURRI, LUIGI, MANCUSO, MICHELANGELO, QUATTRONE A., SICILIANO, GABRIELE, MAGARIELLO A, LONGO K, PATITUCCI A, MAZZEI R, MUGLIA M, DE ANGELIS MV, SPROVIERI T, BRANCA D, UNGARO C, AGUGLIA U   +15 more
core  

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

, 2020
Mutations in SPG7 and SPAST are common causes of hereditary spastic paraplegia (HSP). While some SPG7 mutations cause paraplegin deficiency, other SPG7 mutations cause increased paraplegin expression.
Davis, Ryan L, Wali, Gautam, Liyanage, Erandhi, Mackay-Sim, Alan, Kumar, Kishore Raj, Sue, Carolyn M   +5 more
core   +1 more source

Genetic and metabolic diagnostic profile of children presented with spastic paraplegia/diplegia

Brain Disorders
Background: Spastic paraplegia/diplegia in children may be an early manifestation of underlying neurogenetic disorders which are often underdiagnosed in clinical practice.
Nebal Waill Saadi, Basma Adel Ibrahim, Qusay Abed Fahad, Henry Houlden, Rahema Mohammad, Mina Zamani, Adel A. Kareem, Ali Kadhim Al-Husseinawi, Hayder Kadhim Jabbar, Saif Hamed Farhan, Omar A.Thu Noon, Mays Al-Tai   +11 more
doaj   +1 more source

Hereditary spastic paraplegia.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie, 2009
Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two
Eugenia, Roşulescu, Cosmina, Stănoiu, Elena, Buteică, B, Stănoiu, F, Burada, Mihaela, Zăvăleanu   +5 more
openaire   +1 more source

Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta

Neurología
Resumen: Las ataxias hereditarias (AH) y paraparesias espásticas hereditarias son enfermedades raras, poco frecuentes en las consultas del neurólogo general.
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera   +4 more
doaj   +1 more source

Hereditary Spastic Paraplegia

Yonsei Medical Journal, 1983
I S, Choi, H K, Cho, K W, Kim
openaire   +2 more sources

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society
Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic ...
Qingqing Wang, Manikum Moodley
doaj   +1 more source