Results 91 to 100 of about 14,731 (217)

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 [PDF]

, 2019
Objective : We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7).
Anheim, M, Baets, J, Banneau, G, Bassi, MT, Brice, A, Charles, P, Coarelli, G, D'Angelo, MG, D'Hooghe, M, Davoine, CS, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Durr, A, Duyckaerts, C, Ewenczyk, C, Fontaine, B, Hamer, EG, Kamm, C, Klockgether, T, Klopstock, T, Kurzwelly, D, Martinuzzi, A, Masrori, P, Migeotte, I, Mochel, F, Monin, ML, Ollagnon-Roman, E, Papin, M, Schule, R, Schöls, L, Seilhean, D, Stevanin, G, Synofzik, M, Tezenas du Montcel, S, van de Warrenburg, BPC   +35 more
core   +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

Impaired modulation of quadriceps tendon jerk reflex during spastic gait: differences between spinal and cerebral lesions [PDF]

, 2017
In healthy subjects, functionally appropriate modulation of short latency leg muscle reflexes occurs during gait. This modulation has been ascribed, in part, to changes in presynaptic inhibition of Ia afferents.
Berger, Wiltrud, Dietz, Volker, Ertel, Matthias, Faist, Michael   +3 more
core  

Tropical spastic paraparesis.

Folia neuropathologica, 2002
Human T-cell lymphotropic virus type I (HTLV-I) is the cause of endemic tropical spastic paraparesis (TSP) or HTLV-I-associated myelopathy (HAM). Because TSP/HAM is not a fatal disease, the neuropathology of this disease, albeit relatively well understood, is based on the examination of just a few incidental cases.
J, Buczyński, R, Yanagihara, C, Mora, L, Cartier, A, Verdugo, F, Araya, L, Castillo, C J, Gibbs, C D, Gajdusek, P, Rogers-Johnson, P P, Liberski   +10 more
openaire   +1 more source

ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

Annals of the Child Neurology Society
Objective We present the cases of two sisters, both harboring the same ALDH18A1 gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis with ataxia, epileptic encephalopathy, severe psychomotor deficits, and ...
Giusi Ferrara, Gianni Cutillo, Irene Peterlongo, Eleonora Minacapilli, Maria Iascone, Pierangelo Veggiotti, Isabella Fiocchi   +6 more
doaj   +1 more source

Overlapping Aicardi–Goutières and Singleton–Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis

Immunological Medicine
Aicardi–Goutières syndrome (AGS) and Singleton–Merten syndrome (SMS) are associated with heterozygous gain-of-function mutations in the interferon induced with helicase C domain 1 (IFIH1) gene.
Susumu Yamazaki, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Ryo Ogino, Takayuki Miyamoto, Kazushi Izawa, Yuko Segawa, Jun Kakizaki, Masaaki Mori, Masaki Shimizu   +10 more
doaj   +1 more source

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report

Journal of International Medical Research
X-linked adrenoleukodystrophy is a rare peroxisomal disorder caused by mutations in ABCD1 , thereby resulting in impaired β-oxidation of very long-chain fatty acids.
Min Cheol Chang, Seoyon Yang
doaj   +1 more source

Hepatic myelopathy neurological complication of chronic liver disease: two case reports

Journal of Medical Case Reports
Background Hepatic myelopathy is a very rare neurological complication of chronic liver disease. Patients habitually present with progressive pure motor spastic paraparesis.
Mariem Mhiri, Mehdi Ben Abdelwahed, Mohamed Amine Dhiflaoui, Rihab Ben Dhia, Narjes Gouta, Imen Jemni, Raoua Baklouti, Mejda Zakhama, Arwa Gueddiche, Mohamed Hichem Loghmari, Nabil Ben Chaabene, Leila Safer, Mahbouba Frih-Ayed   +12 more
doaj   +1 more source

RNASEH2B Pathogenic Mutation Presenting with Pure, Apparently Non-Progressive Hereditary Spastic Paraparesis. [PDF]

Ann Indian Acad Neurol, 2023
Agarwal A, Garg D, Garg A, Srivastava AK.   +3 more
europepmc   +1 more source

A Rare Patient with Hereditary Spastic Paraparesis with Parkinsonism. [PDF]

Asian J Neurosurg, 2023
Onder H, Comoglu S.
europepmc   +1 more source